Term IRI Term label Parent term IRI Parent term label Alternative term Definition http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation http://purl.obolibrary.org/obo/SCDO_0001369 Genetic Variation A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene. http://purl.obolibrary.org/obo/SCDO_0000455 Global Mental Status Screener http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A test to assess the respondent's overall mental capability. http://purl.obolibrary.org/obo/SCDO_0000045 Alpha-Adrenergic Agents http://purl.obolibrary.org/obo/SCDO_0000067 Antihypertensive Agents Drugs that selectively bind to and activate alpha adrenergic receptors. http://purl.obolibrary.org/obo/CHEBI_35493 Antipyretic http://purl.obolibrary.org/obo/CHEBI_23888 Drug A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever. http://purl.obolibrary.org/obo/CHEBI_50858 Corticosteroid http://purl.obolibrary.org/obo/SCDO_0000057 Anti-Inflammatory Agent A natural or synthetic analogue of the hormones secreted by the adrenal gland. http://purl.obolibrary.org/obo/CHEBI_6807 Methadone http://purl.obolibrary.org/obo/CHEBI_35482 Opioid A synthetic opioid that is used as the hydrochloride. It is an opioid analgesic that is primarily a mu-opioid agonist. It has actions and uses similar to those of morphine. It also has a depressant action on the cough center and may be given to control intractable cough associated with terminal lung cancer. Methadone is also used as part of the treatment of dependence on opioid drugs, although prolonged use of methadone itself may result in dependence. http://purl.obolibrary.org/obo/HP_0025065 Abnormal Mean Corpuscular Volume http://purl.obolibrary.org/obo/HP_0001877 Abnormal Erythrocyte Morphology A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. http://purl.obolibrary.org/obo/MP_0001212 Skin Lesions http://purl.obolibrary.org/obo/HP_0011123 Skin Inflammation Focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin. http://purl.obolibrary.org/obo/MP_0001589 Abnormal Mean Corpuscular Hemoglobin http://purl.obolibrary.org/obo/HP_0001877 Abnormal Erythrocyte Morphology Anomalies in the average levels of hemoglobin contained in an erythrocyte. http://purl.obolibrary.org/obo/MP_0001762 Diuresis http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the Urinary System Increased volume of urine produced and excreted. http://purl.obolibrary.org/obo/MP_0001792 Impaired Wound Healing http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis Reduced ability or inability to self-repair and close wounds. http://purl.obolibrary.org/obo/MP_0002081 Perinatal Death http://purl.obolibrary.org/obo/HP_0001197 Abnormality of Prenatal Development or Birth Death anytime within the perinatal period. http://purl.obolibrary.org/obo/MP_0002118 Abnormal Lipid Homeostasis http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis Anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues. http://purl.obolibrary.org/obo/MP_0002329 Abnormal Blood Gas Level http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System Anomaly in the amount of oxygen and carbon dioxide in the blood. http://purl.obolibrary.org/obo/MP_0002412 Increased Susceptibility to Bacterial Infection http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the Immune System Greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria. http://purl.obolibrary.org/obo/MP_0003224 Neuron Degeneration http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology A retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses. http://purl.obolibrary.org/obo/MP_0005376 Metabolism/Homeostasis Phenotype http://purl.obolibrary.org/obo/OGMS_0000023 Phenotype The observable morphological and physiological characteristics related to a state of equilibrium in the body with respect to various functions and to chemical composition of the fluids and tissues or the processes that cause many of the chemical changes in living mammalian organisms that are manifested through development and lifespan. http://purl.obolibrary.org/obo/MP_0009642 Abnormal Blood Homeostasis http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis Anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood. http://purl.obolibrary.org/obo/MP_0010067 Increased Red Blood Cell Distribution Width http://purl.obolibrary.org/obo/MP_0010066 Abnormal Red Blood Cell Distribution Width Higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism. http://purl.obolibrary.org/obo/MP_0010163 Hemolysis http://purl.obolibrary.org/obo/HP_0020054 Abnormal Erythrocyte Physiology Destruction of erythrocytes such that hemoglobin is released from the cells; may occur by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity. http://purl.obolibrary.org/obo/MP_0011468 Abnormal Urine Amino Acid Level http://purl.obolibrary.org/obo/HP_0003110 Abnormal Urine Homeostasis Any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group. http://purl.obolibrary.org/obo/MP_0005533 Increased Body Temperature http://purl.obolibrary.org/obo/MP_0005535 Abnormal Body Temperature Greater than the level of heat natural to a living being. http://purl.obolibrary.org/obo/MP_0005534 Decreased Body Temperature http://purl.obolibrary.org/obo/MP_0005535 Abnormal Body Temperature Less than the level of heat natural to a living being. http://purl.obolibrary.org/obo/MP_0005535 Abnormal Body Temperature http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis Deviation in the level of heat natural to a living being. http://purl.obolibrary.org/obo/MP_0005561 Increased Mean Corpuscular Hemoglobin http://purl.obolibrary.org/obo/MP_0001589 Abnormal Mean Corpuscular Hemoglobin Greater than the average levels of hemoglobin contained in an erythrocyte. http://purl.obolibrary.org/obo/MP_0005562 Decreased Mean Corpuscular Hemoglobin http://purl.obolibrary.org/obo/MP_0001589 Abnormal Mean Corpuscular Hemoglobin Less than the average levels of hemoglobin contained in an erythrocyte. http://purl.obolibrary.org/obo/MP_0009568 Abnormal Red Blood Cell Deformability http://purl.obolibrary.org/obo/HP_0020054 Abnormal Erythrocyte Physiology A measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress. http://purl.obolibrary.org/obo/MP_0010066 Abnormal Red Blood Cell Distribution Width http://purl.obolibrary.org/obo/HP_0001877 Abnormal Erythrocyte Morphology An anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism. http://purl.obolibrary.org/obo/MP_0010068 Decreased Red Blood Cell Distribution Width http://purl.obolibrary.org/obo/MP_0010066 Abnormal Red Blood Cell Distribution Width Lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism. http://purl.obolibrary.org/obo/UO_0000180 Mass Per Unit Volume http://purl.obolibrary.org/obo/UO_0000051 Concentration Unit A concentration unit which is a standard measure of the mass of a substance in a given volume (density). http://purl.obolibrary.org/obo/UO_0000200 Cell Concentration Unit http://purl.obolibrary.org/obo/UO_0000051 Concentration Unit A concentration unit which denotes the average cell number in a given volume. http://purl.obolibrary.org/obo/UO_0000272 mmHg http://purl.obolibrary.org/obo/UO_0000109 Pressure Unit A unit of pressure equal to the amount of fluid pressure one millimeter deep in mercury at zero degrees centigrade on Earth. http://purl.obolibrary.org/obo/UO_0000316 cells per microliter http://purl.obolibrary.org/obo/UO_0000200 Cell Concentration Unit A unit of cell concentration which is equal to one cell in a volume of 1 microliter. http://purl.obolibrary.org/obo/VO_0000642 Influenza Virus Vaccine http://purl.obolibrary.org/obo/VO_0000001 Vaccine A viral vaccine that protects against infection with influenza virus. http://purl.obolibrary.org/obo/APOLLO_SV_00000241 Age Range Category http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics An information content entity specifying the upper and lower limit of a range of ages of continuants. http://purl.obolibrary.org/obo/OBI_0002140 Temperature Measurement Assay http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay An assay to determine the temperature of an evaluant. http://purl.obolibrary.org/obo/HP_0031956 Elevated Serum Aspartate Aminotransferase http://purl.obolibrary.org/obo/HP_0012379 Abnormal Enzyme/Coenzyme Activity An abnormally high concentration in the circulation of aspartate aminotransferase (AST). http://purl.obolibrary.org/obo/HP_0031964 Elevated Serum Alanine Aminotransferase http://purl.obolibrary.org/obo/HP_0012379 Abnormal Enzyme/Coenzyme Activity An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells. http://purl.obolibrary.org/obo/ICO_0000228 Data Sharing http://purl.obolibrary.org/obo/SCDO_0006339 Research A planned process in which data possessed by one person or organization is shared with one or more other persons or organizations. http://purl.obolibrary.org/obo/ICO_0000255 Participant Withdrawal Process http://purl.obolibrary.org/obo/SCDO_1000422 Basic Element of a Consent Form A directive information entity that prescribes some process for withdraw from another planned process. http://purl.obolibrary.org/obo/ICO_0000278 Description of Future Biospecimen Use http://purl.obolibrary.org/obo/ICO_0000305 Description of Future Use A descriptive information content entity that describes how biospecimens will be used. http://purl.obolibrary.org/obo/ICO_0000293 Data Sharing Agreement http://purl.obolibrary.org/obo/SCDO_1000406 Data Sharing Descriptor A directive information entity that prescribes the information that is permitted to be shared or the processes for sharing that information. http://purl.obolibrary.org/obo/ICO_0000304 Description of Future Data Use http://purl.obolibrary.org/obo/ICO_0000305 Description of Future Use A descriptive information content entity that describes how data will be used. http://purl.obolibrary.org/obo/ICO_0000305 Description of Future Use http://purl.obolibrary.org/obo/SCDO_1000422 Basic Element of a Consent Form A descriptive information content entity that describes future use of material or information. http://purl.obolibrary.org/obo/GSSO_003239 Ethical Principle http://purl.obolibrary.org/obo/SCDO_1000430 Ethics Related Concept Principles which provide a framework within which ethical dilemmas and other problems may be analyzed. http://purl.obolibrary.org/obo/SCDO_0000506 Hematopoietic Stem Cell Transplantation http://purl.obolibrary.org/obo/SCDO_0000301 Curative Therapeutics Transfer of hematopoietic stem cells from bone marrow or blood between individuals within the same species (transplantation, homologous) or transfer within the same individual (transplantation, autologous). Hematopoietic stem cell transplantation has been used as an alternative to bone marrow transplantation in the treatment of a variety of neoplasms. http://purl.obolibrary.org/obo/SCDO_0000598 Hypnotics and Sedatives http://purl.obolibrary.org/obo/CHEBI_23888 Drug Drugs used to induce drowsiness or sleep or to reduce psychological excitement or anxiety. http://purl.obolibrary.org/obo/SCDO_0001384 Reduced Alpha/Gamma Synthesis Ratio http://purl.obolibrary.org/obo/HP_0005560 Imbalanced Hemoglobin Synthesis A reduction in the ratio of production of alpha globin to that of gamma globin. http://purl.obolibrary.org/obo/IDOMAL_0000122 Malaria Chemoprophylaxis http://purl.obolibrary.org/obo/SCDO_0000709 Malaria Prophylaxis The use of antimalarial drugs for the prevention of infection. http://purl.obolibrary.org/obo/ExO_0000034 Occupation http://purl.obolibrary.org/obo/SCDO_1000157 Quality of Life Related Personal Attribute An individual attribute that is the usual or principal work or business of an individual. http://purl.obolibrary.org/obo/NCIT_C101217 Retinal Examination http://purl.obolibrary.org/obo/SCDO_0000835 Ophthalmoscopy An examination of the retina of the eye using an ophthalmoscope. http://purl.obolibrary.org/obo/NCIT_C102531 Pulmonary Infiltrate http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma. http://purl.obolibrary.org/obo/NCIT_C16612 Gene http://purl.obolibrary.org/obo/SCDO_0005722 Genetic Structure A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function. http://purl.obolibrary.org/obo/NCIT_C16632 Geographic Area http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute Any demarcated area of the Earth; may be determined by both natural and human boundaries. http://purl.obolibrary.org/obo/NCIT_C17241 Urine Test http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay Laboratory analysis of urine, commonly used to aid in the diagnosis of disease or to detect the presence of a specific substance. It involves examination of the urine by physical or chemical means as well as microscopic examination that helps to screen for urinary tract infections, renal disease, and diseases of other organs, that result in abnormal metabolites (break-down products) appearing in the urine. http://purl.obolibrary.org/obo/NCIT_C25464 deprecated Country http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms A collective generic term that refers here to a wide variety of dependencies, areas of special sovereignty, uninhabited islands, and other entities in addition to the traditional countries or independent states. http://purl.obolibrary.org/obo/NCIT_C27222 Cerebral Aneurysm http://purl.obolibrary.org/obo/HP_0002060 Abnormality of the Cerebrum A balloon type pouch or bulge in the wall of a cerebral blood vessel. http://purl.obolibrary.org/obo/NCIT_C3671 Injury http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. http://purl.obolibrary.org/obo/NCIT_C38060 Eye Examination http://purl.obolibrary.org/obo/SCDO_0000898 Physical Examination A test performed by an ophthalmologist or optometrist assessing vision and ability to focus on and discern objects, as well as other tests and examinations pertaining to the eyes. http://purl.obolibrary.org/obo/NCIT_C43646 Association http://purl.obolibrary.org/obo/SCDO_0001000 SCDO An association is a non-hierarchical, named relationship between a source and target concept that does not affect classification and is not inherited by child concepts during classification. Associations are bidirectional and have a stated inverse. Unlike roles, associations do not have a domain or range. http://purl.obolibrary.org/obo/NCIT_C99063 Spinal Cord Infarction http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology Ischemic necrosis of the spinal cord caused by occlusion of the arteries that supply blood to the spinal cord. Signs and symptoms include intermittent back pain, pain in the legs, paralysis, and incontinence. http://purl.obolibrary.org/obo/NCIT_C115199 Cardiovascular Complication http://purl.obolibrary.org/obo/NCIT_C2959 Complication Any heart or vascular disorder occurring as a consequence of injury to the cardiovascular system. http://purl.obolibrary.org/obo/NCIT_C115224 Hepatic Complication http://purl.obolibrary.org/obo/NCIT_C2959 Complication Any disorder of the liver occurring as a consequence of injury to the liver parenchyma. http://purl.obolibrary.org/obo/NCIT_C115319 Ophthalmologic Complication http://purl.obolibrary.org/obo/NCIT_C2959 Complication Any eye disorder occurring as a consequence of injury to the eye. http://purl.obolibrary.org/obo/NCIT_C116161 Multiplex Ligation-Dependent Probe Amplification http://purl.obolibrary.org/obo/SCDO_0000913 Polymerase Chain Reaction A type of high-throughput, multiplex PCR method used to determine abnormal DNA copy number changes of up to 50 genomic DNA or RNA sequences with a single pair of PCR primers. It is frequently used in the detection of genetic aberrations in tumors, and can distinguish sequences differing in only a single nucleotide. http://purl.obolibrary.org/obo/NCIT_C116942 Developmental Delay http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental Abnormality Failure to meet, or late achievement of developmental milestones. http://purl.obolibrary.org/obo/NCIT_C122920 Intelligence Scale http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire An assessment tool designed to measure an individual's cognitive capabilities. It may be general or it may assess abilities in more discrete cognitive domains. http://purl.obolibrary.org/obo/NCIT_C17230 Ultrasound Test http://purl.obolibrary.org/obo/OBI_0000185 Imaging Assay A technique in which high-frequency sound waves are bounced off internal organs and the echo pattern is converted into a 2 dimensional picture of the structures beneath the transducer. http://purl.obolibrary.org/obo/NCIT_C25474 Data http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A collection or single item of factual or reported information, derived from measurement or research, from which conclusions may be drawn. http://purl.obolibrary.org/obo/NCIT_C3439 Viral Infection http://purl.obolibrary.org/obo/IDO_0000586 Infection Any disease caused by a virus. http://purl.obolibrary.org/obo/NCIT_C131682 Sickle Cell Disease-SS http://purl.obolibrary.org/obo/SCDO_1000106 Sickle Cell Disease A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles. http://purl.obolibrary.org/obo/NCIT_C133543 Crizanlizumab http://purl.obolibrary.org/obo/CHEBI_23888 Drug A humanized monoclonal immunoglobulin G1 anti-P-selectin antibody with vaso-protective and anti-vaso-occlusive properties. Upon administration, crizanlizumab binds to P-selectin and blocks its interaction with P-selectin glycoprotein ligand-1 (PSGL-1; SELPLG) on neutrophils and monocytes. P-selectin, a glycoprotein that functions as a cell adhesion molecule (CAM), translocates to the surface of activated endothelial cells and platelets, upon stimulation, where it binds to its ligand and mediates the rolling of platelets and neutrophils on activated endothelial cells. Therefore, blockade of p-selectin may inhibit platelet aggregation, maintain blood flow and minimize sickle cell-related pain crises (SCPC). http://purl.obolibrary.org/obo/OBI_0002146 HIV Antibody Test http://purl.obolibrary.org/obo/SCDO_0000571 HIV Test An antigen specific antibodies assay that is meant to detect antibodies that bind to human immunodeficiency virus (HIV) antigens. http://purl.obolibrary.org/obo/OBI_0002556 Minimum Age Value Specification http://purl.obolibrary.org/obo/SCDO_1000401 Data Descriptor A value specifcation that specifies the youngest age when specifying an age range. http://purl.obolibrary.org/obo/OBI_0002557 Maximum Age Value Specification http://purl.obolibrary.org/obo/SCDO_1000401 Data Descriptor A value specifcation that specifies the oldest age when specifying an age range. http://purl.obolibrary.org/obo/HP_0025546 Abnormal Mean Corpuscular Hemoglobin Concentration http://purl.obolibrary.org/obo/HP_0001877 Abnormal Erythrocyte Morphology Deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices. http://purl.obolibrary.org/obo/HP_0025547 Decreased Mean Corpuscular Hemoglobin Concentration http://purl.obolibrary.org/obo/HP_0025546 Abnormal Mean Corpuscular Hemoglobin Concentration Less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices. http://purl.obolibrary.org/obo/HP_0025548 Increased Mean Corpuscular Hemoglobin Concentration http://purl.obolibrary.org/obo/HP_0025546 Abnormal Mean Corpuscular Hemoglobin Concentration Greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices. http://purl.obolibrary.org/obo/HP_0031368 Intestinal Perforation http://purl.obolibrary.org/obo/SCDO_1000433 Intestinal Injury A hole (perforation) in the wall of the intestine. http://purl.obolibrary.org/obo/HP_0031456 Ectopic Pregnancy http://purl.obolibrary.org/obo/NCIT_C34941 Pregnancy Complication A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube). http://purl.obolibrary.org/obo/HP_0003611 Dyslipidemia http://purl.obolibrary.org/obo/MP_0002118 Abnormal Lipid Homeostasis Anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood. http://purl.obolibrary.org/obo/DOID_2326 Gastroenteritis http://purl.obolibrary.org/obo/IDO_0000586 Infection A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. http://purl.obolibrary.org/obo/DOID_813 Septic Arthritis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System An arthritis that involves infection by a pathogen located in a joint. http://purl.obolibrary.org/obo/DOID_9220 Central Sleep Apnea http://purl.obolibrary.org/obo/HP_0000708 Behavioural Abnormality A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. http://purl.obolibrary.org/obo/HP_0000005 Mode of Inheritance http://purl.obolibrary.org/obo/SCDO_0001000 SCDO The pattern in which a particular genetic trait or disorder is passed from one generation to the next. http://purl.obolibrary.org/obo/HP_0000006 Autosomal Dominant http://purl.obolibrary.org/obo/HP_0000005 Mode of Inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. http://purl.obolibrary.org/obo/HP_0000007 Autosomal Recessive http://purl.obolibrary.org/obo/HP_0000005 Mode of Inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygous (two copies of the same mutant allele) or compound heterozygous (whereby each copy of a gene has a distinct mutant allele). http://purl.obolibrary.org/obo/HP_0000027 Azoospermia http://purl.obolibrary.org/obo/HP_0000080 Abnormality of Reproductive System Physiology Absence of any measurable level of sperm in a male's semen. http://purl.obolibrary.org/obo/HP_0000044 Hypogonadotropic Hypogonadism http://purl.obolibrary.org/obo/HP_0000080 Abnormality of Reproductive System Physiology Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the Urinary System An abnormality of the kidney. http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the Genital System http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the genital system. http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the Urinary System http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the urinary system. http://purl.obolibrary.org/obo/HP_0000080 Abnormality of Reproductive System Physiology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the Genital System An abnormal functionality of the genital system. http://purl.obolibrary.org/obo/HP_0000096 Glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney Scarring and fibrosis within the glomerulus. http://purl.obolibrary.org/obo/HP_0000097 Focal Segmental Glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerulosclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the renal glomeruli. http://purl.obolibrary.org/obo/HP_0000112 Nephropathy http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney A nonspecific term referring to disease or damage of the kidneys. http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype http://purl.obolibrary.org/obo/OGMS_0000023 Phenotype A phenotype that shows detectable differences from normal. http://purl.obolibrary.org/obo/HP_0000123 Nephritis http://purl.obolibrary.org/obo/SCDO_1000383 Renal Complication The presence of inflammation affecting the kidney. http://purl.obolibrary.org/obo/HP_0000225 Gingival Bleeding http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the Face Hemorrhage affecting the gingiva. http://purl.obolibrary.org/obo/HP_0000388 Otitis Media http://purl.obolibrary.org/obo/IDO_0000586 Infection Inflammation or infection of the middle ear. http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Any abnormality of the eye, including location, spacing, and intraocular abnormalities. http://purl.obolibrary.org/obo/HP_0000505 Visual Impairment http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. http://purl.obolibrary.org/obo/HP_0000708 Behavioural Abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. http://purl.obolibrary.org/obo/HP_0000726 Dementia http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. http://purl.obolibrary.org/obo/HP_0000763 Sensory Neuropathy http://purl.obolibrary.org/obo/HP_0009830 Peripheral Neuropathy Peripheral neuropathy affecting the sensory nerves. http://purl.obolibrary.org/obo/HP_0000789 Infertility http://purl.obolibrary.org/obo/HP_0000080 Abnormality of Reproductive System Physiology Inability to produce live offspring. http://purl.obolibrary.org/obo/HP_0000798 Oligospermia http://purl.obolibrary.org/obo/HP_0000080 Abnormality of Reproductive System Physiology Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. http://purl.obolibrary.org/obo/HP_0000805 Enuresis http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. http://purl.obolibrary.org/obo/HP_0000815 Hypergonadotropic Hypogonadism http://purl.obolibrary.org/obo/HP_0000080 Abnormality of Reproductive System Physiology Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the Endocrine System http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the endocrine system. http://purl.obolibrary.org/obo/HP_0000820 Abnormality of the Thyroid Gland http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the Endocrine System An abnormality of the thyroid gland. http://purl.obolibrary.org/obo/HP_0000821 Hypothyroidism http://purl.obolibrary.org/obo/HP_0000820 Abnormality of the Thyroid Gland Deficiency of thyroid hormone. http://purl.obolibrary.org/obo/HP_0000822 Hypertension http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology The presence of chronic increased pressure in the systemic arterial system. http://purl.obolibrary.org/obo/HP_0000823 Delayed Puberty http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. http://purl.obolibrary.org/obo/HP_0000824 Growth Hormone Deficiency http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the Endocrine System Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism. http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the Parathyroid Gland http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the Endocrine System An abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/HP_0000829 Hypoparathyroidism http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the Parathyroid Gland A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the Adrenal Glands http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the Endocrine System Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kidneys. http://purl.obolibrary.org/obo/HP_0000836 Hyperthyroidism http://purl.obolibrary.org/obo/HP_0000820 Abnormality of the Thyroid Gland An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). http://purl.obolibrary.org/obo/HP_0000842 Hyperinsulinemia http://purl.obolibrary.org/obo/HP_0011014 Abnormal Glucose Homeostasis An increased concentration of insulin in the blood. http://purl.obolibrary.org/obo/HP_0000843 Hyperparathyroidism http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the Parathyroid Gland Excessive production of parathyroid hormone (PTH) by the parathyroid glands. http://purl.obolibrary.org/obo/HP_0000855 Insulin Resistance http://purl.obolibrary.org/obo/HP_0011014 Abnormal Glucose Homeostasis Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. http://purl.obolibrary.org/obo/HP_0000873 Diabetes Insipidus http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the Endocrine System A state of excessive water excretion and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). http://purl.obolibrary.org/obo/HP_0000876 Oligomenorrhea http://purl.obolibrary.org/obo/HP_0012243 Abnormal Reproductive System Morphology Infrequent menses (less than 6 per year or more than 35 days between cycles). http://purl.obolibrary.org/obo/HP_0000938 Osteopenia http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. http://purl.obolibrary.org/obo/HP_0000939 Osteoporosis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the Skin http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the Integument An abnormality of the skin. http://purl.obolibrary.org/obo/HP_0000953 Cutaneous Hyperpigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormality of Skin Morphology A darkening of the skin related to an increase in melanin production and deposition. http://purl.obolibrary.org/obo/HP_0000961 Cyanosis http://purl.obolibrary.org/obo/HP_0011121 Abnormality of Skin Morphology Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. http://purl.obolibrary.org/obo/HP_0000980 Pallor http://purl.obolibrary.org/obo/HP_0011121 Abnormality of Skin Morphology Abnormally pale skin. http://purl.obolibrary.org/obo/HP_0001010 Hypopigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormality of Skin Morphology A reduction of skin color related to a decrease in melanin production and deposition. http://purl.obolibrary.org/obo/HP_0001061 Acne http://purl.obolibrary.org/obo/HP_0011123 Skin Inflammation A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). http://purl.obolibrary.org/obo/HP_0001081 Cholelithiasis http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System Hard, pebble-like deposits that form within the gallbladder. http://purl.obolibrary.org/obo/HP_0001197 Abnormality of Prenatal Development or Birth http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. http://purl.obolibrary.org/obo/HP_0001265 Hyporeflexia http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Reduction of neurologic reflexes such as the knee-jerk reaction. http://purl.obolibrary.org/obo/HP_0001271 Polyneuropathy http://purl.obolibrary.org/obo/HP_0009830 Peripheral Neuropathy A generalized disorder of peripheral nerves. http://purl.obolibrary.org/obo/HP_0001279 Syncope http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. http://purl.obolibrary.org/obo/HP_0001298 Encephalopathy http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology A term that means brain disease, damage, or malfunction. In general, it is manifested by an altered mental state. http://purl.obolibrary.org/obo/HP_0001342 Cerebral Hemorrhage http://purl.obolibrary.org/obo/HP_0002170 Intracranial Hemorrhage Hemorrhage into the parenchyma of the brain. http://purl.obolibrary.org/obo/HP_0001343 Kernicterus http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. http://purl.obolibrary.org/obo/HP_0001371 Flexion Contracture http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. http://purl.obolibrary.org/obo/HP_0001382 Joint Hypermobility http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System The ability of a joint to move beyond its normal range of motion. http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the Liver http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System An abnormality of the liver. http://purl.obolibrary.org/obo/HP_0001394 Cirrhosis http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the Liver A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. http://purl.obolibrary.org/obo/HP_0001395 Hepatic Fibrosis http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the Liver The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. http://purl.obolibrary.org/obo/HP_0001406 Intrahepatic Cholestasis http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the Liver Impairment of bile flow due to obstruction in the small bile ducts within the liver. http://purl.obolibrary.org/obo/HP_0001507 Growth Abnormality http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Abnormality of growth. http://purl.obolibrary.org/obo/HP_0001511 Intrauterine Growth Restriction http://purl.obolibrary.org/obo/HP_0001507 Growth Abnormality An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the Integument http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the integument, which consists of the skin and the superficial fascia. http://purl.obolibrary.org/obo/HP_0001622 Preterm Delivery http://purl.obolibrary.org/obo/HP_0001197 Abnormality of Prenatal Development or Birth The birth of a baby of less than 37 weeks of gestational age. http://purl.obolibrary.org/obo/HP_0001626 Abnormality of Cardiovascular System http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Any abnormality of the cardiovascular system. http://purl.obolibrary.org/obo/HP_0001635 Cardiac Failure http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. http://purl.obolibrary.org/obo/HP_0001640 Cardiomegaly http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology Increased size of the heart. http://purl.obolibrary.org/obo/HP_0001658 Myocardial Infarction http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. http://purl.obolibrary.org/obo/HP_0001701 Pericarditis http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology Inflammation of the sac-like covering around the heart (pericardium). http://purl.obolibrary.org/obo/HP_0001712 Left Ventricular Hypertrophy http://purl.obolibrary.org/obo/HP_0001714 Ventricular Hypertrophy Enlargement or increased size of the heart left ventricle. http://purl.obolibrary.org/obo/HP_0001714 Ventricular Hypertrophy http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology Enlargement of the cardiovascular ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the Spleen http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System An abnormality of the spleen. http://purl.obolibrary.org/obo/HP_0001787 Abnormal Delivery http://purl.obolibrary.org/obo/HP_0001197 Abnormality of Prenatal Development or Birth An abnormality of the birth process. http://purl.obolibrary.org/obo/HP_0001871 Abnormality of Blood and Blood-Forming Tissues http://purl.obolibrary.org/obo/SCDO_1000820 Hematopoietic System Phenotype An abnormality of the hematopoietic system. http://purl.obolibrary.org/obo/HP_0001872 Abnormal Thrombocyte Morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of Blood and Blood-Forming Tissues An abnormality of platelets. Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. http://purl.obolibrary.org/obo/HP_0001874 Abnormality of Neutrophils http://purl.obolibrary.org/obo/HP_0001871 Abnormality of Blood and Blood-Forming Tissues A neutrophil abnormality. http://purl.obolibrary.org/obo/HP_0001875 Neutropenia http://purl.obolibrary.org/obo/HP_0011991 Abnormal Neutrophil Count An abnormally low number of neutrophils in the peripheral blood. http://purl.obolibrary.org/obo/HP_0001877 Abnormal Erythrocyte Morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of Blood and Blood-Forming Tissues Any structural abnormality of erythrocytes (red-blood cells). http://purl.obolibrary.org/obo/HP_0001878 Hemolytic Anemia http://purl.obolibrary.org/obo/HP_0001903 Anemia A type of anemia caused by premature destruction of red blood cells (hemolysis). http://purl.obolibrary.org/obo/HP_0001894 Thrombocytosis http://purl.obolibrary.org/obo/HP_0011873 Abnormal Platelet Count Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. Increased numbers of platelets in the peripheral blood. http://purl.obolibrary.org/obo/HP_0001896 Reticulocytopenia http://purl.obolibrary.org/obo/HP_0004312 Abnormality of Reticulocytes A reduced number of reticulocytes in the peripheral blood. http://purl.obolibrary.org/obo/HP_0001909 Leukaemia http://purl.obolibrary.org/obo/OBI_1110053 Cancer A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. http://purl.obolibrary.org/obo/HP_0001919 Acute Kidney Injury http://purl.obolibrary.org/obo/HP_0000084 Kidney Failure Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). http://purl.obolibrary.org/obo/HP_0001920 Renal Artery Stenosis http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney The presence of stenosis of the renal artery. http://purl.obolibrary.org/obo/HP_0001923 Reticulocytosis http://purl.obolibrary.org/obo/HP_0004312 Abnormality of Reticulocytes An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. http://purl.obolibrary.org/obo/HP_0001931 Hypochromic Anemia http://purl.obolibrary.org/obo/HP_0001903 Anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. http://purl.obolibrary.org/obo/HP_0001935 Microcytic Anemia http://purl.obolibrary.org/obo/HP_0001903 Anemia A kind of anemia in which the volume of the red blood cells is reduced. http://purl.obolibrary.org/obo/HP_0001943 Hypoglycemia http://purl.obolibrary.org/obo/HP_0011014 Abnormal Glucose Homeostasis A decreased concentration of glucose in the blood. http://purl.obolibrary.org/obo/HP_0001953 Diabetic Ketoacidosis http://purl.obolibrary.org/obo/HP_0000819 Diabetes Mellitus A type of diabetic metabolic abnormality with an accumulation of ketone bodies. http://purl.obolibrary.org/obo/HP_0001970 Interstitial Nephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/HP_0001999 Facial Dysmorphisms http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the Face An abnormal morphology (form) of the face or its components. http://purl.obolibrary.org/obo/HP_0002007 Frontal Bossing http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. http://purl.obolibrary.org/obo/HP_0002014 Diarrhea http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System Abnormally increased frequency of loose or watery bowel movements. http://purl.obolibrary.org/obo/HP_0002019 Constipation http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System Infrequent or difficult evacuation of feces. http://purl.obolibrary.org/obo/HP_0002059 Cerebral Atrophy http://purl.obolibrary.org/obo/HP_0002060 Abnormality of the Cerebrum Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. http://purl.obolibrary.org/obo/HP_0002060 Abnormality of the Cerebrum http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology An abnormality of the telencephalon, which is also known as the cerebrum. http://purl.obolibrary.org/obo/HP_0002067 Bradykinesia http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). http://purl.obolibrary.org/obo/HP_0002071 Extrapyramidal Symptoms http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). http://purl.obolibrary.org/obo/HP_0002076 Migraine http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. http://purl.obolibrary.org/obo/HP_0002138 Subarachnoid Hemorrhage http://purl.obolibrary.org/obo/HP_0002170 Intracranial Hemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater. http://purl.obolibrary.org/obo/HP_0002157 Azotaemia http://purl.obolibrary.org/obo/HP_0004364 Abnormal Circulating Nitrogen Compound Concentration An increased concentration of nitrogen compounds in the blood. http://purl.obolibrary.org/obo/HP_0002170 Intracranial Hemorrhage http://purl.obolibrary.org/obo/SCDO_1000037 Abnormality of the Cerebral Vasculature Hemorrhage occurring within the skull. http://purl.obolibrary.org/obo/HP_0002181 Cerebral Edema http://purl.obolibrary.org/obo/HP_0000969 Edema Abnormal accumulation of fluid in the brain. http://purl.obolibrary.org/obo/HP_0002240 Hepatomegaly http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the Liver Abnormally increased size of the liver. http://purl.obolibrary.org/obo/HP_0002341 Cervical Cord Compression http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. http://purl.obolibrary.org/obo/HP_0002427 Motor Aphasia http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. http://purl.obolibrary.org/obo/HP_0002516 Intracranial Hypertension http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the Vasculature http://purl.obolibrary.org/obo/HP_0001626 Abnormality of Cardiovascular System An abnormality of the vasculature. http://purl.obolibrary.org/obo/HP_0002659 Bone Fragility http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. http://purl.obolibrary.org/obo/HP_0002665 Lymphoma http://purl.obolibrary.org/obo/OBI_1110053 Cancer A cancer originating in lymphocytes and presenting as a solid tumor of lymphoid cells. http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the Immune System http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the immune system. http://purl.obolibrary.org/obo/HP_0002808 Kyphosis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System Exaggerated anterior convexity of the thoracic vertebral column. http://purl.obolibrary.org/obo/HP_0002870 Obstructive Sleep Apnea http://purl.obolibrary.org/obo/HP_0000708 Behavioural Abnormality A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. http://purl.obolibrary.org/obo/HP_0002907 Microscopic Hematuria http://purl.obolibrary.org/obo/SCDO_0000508 Hematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine. http://purl.obolibrary.org/obo/HP_0002913 Myoglobinuria http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the Urinary System Presence of myoglobin in the urine. http://purl.obolibrary.org/obo/HP_0002955 Granulomatosis http://purl.obolibrary.org/obo/IDO_0000586 Infection Any disease characterized by the formation of numerous granulomas. http://purl.obolibrary.org/obo/HP_0003077 Hyperlipidemia http://purl.obolibrary.org/obo/HP_0003611 Dyslipidemia An elevated lipid concentration in the blood. http://purl.obolibrary.org/obo/HP_0003110 Abnormal Urine Homeostasis http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis An abnormality of the composition of urine or the levels of its components. http://purl.obolibrary.org/obo/HP_0003116 Abnormal Echocardiogram http://purl.obolibrary.org/obo/HP_0500015 Abnormal Cardiac Test An abnormality detectable by sonography of the heart (echocardiography). http://purl.obolibrary.org/obo/HP_0003126 Tubular Proteinuria http://purl.obolibrary.org/obo/SCDO_0000932 Proteinuria Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). http://purl.obolibrary.org/obo/HP_0003155 Elevated Serum Alkaline Phosphatase http://purl.obolibrary.org/obo/HP_0004379 Abnormality of Alkaline Phosphatase Level Abnormally increased serum levels of alkaline phosphatase activity. http://purl.obolibrary.org/obo/HP_0003158 Hyposthenuria http://purl.obolibrary.org/obo/HP_0004727 Impaired Renal Concentrating Ability An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. http://purl.obolibrary.org/obo/HP_0003198 Myopathy http://purl.obolibrary.org/obo/SCDO_1000268 Abnormality of the Musculature A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. http://purl.obolibrary.org/obo/HP_0003265 Neonatal Hyperbilirubinemia http://purl.obolibrary.org/obo/NCIT_C27088 Hyperbilirubinemia A type of hyperbilirubinemia with neonatal onset. http://purl.obolibrary.org/obo/HP_0003282 Decreased Serum Alkaline Phosphatase http://purl.obolibrary.org/obo/HP_0004379 Abnormality of Alkaline Phosphatase Level Abnormally reduced serum levels of alkaline phosphatase. http://purl.obolibrary.org/obo/HP_0003302 Spondylolisthesis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. http://purl.obolibrary.org/obo/HP_0003394 Muscle Cramps http://purl.obolibrary.org/obo/SCDO_1000268 Abnormality of the Musculature Sudden and involuntary contractions of one or more muscles. http://purl.obolibrary.org/obo/HP_0003457 EMG Abnormality http://purl.obolibrary.org/obo/SCDO_1000268 Abnormality of the Musculature Abnormal results of investigations using electromyography (EMG). http://purl.obolibrary.org/obo/HP_0003563 Decreased Circulating LDL Cholesterol Level http://purl.obolibrary.org/obo/HP_0003611 Dyslipidemia Reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions. http://purl.obolibrary.org/obo/HP_0003573 Increased Total Bilirubin http://purl.obolibrary.org/obo/NCIT_C27088 Hyperbilirubinemia Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. http://purl.obolibrary.org/obo/HP_0003641 Hemoglobinuria http://purl.obolibrary.org/obo/SCDO_1000383 Renal Complication The presence of free hemoglobin in the urine. http://purl.obolibrary.org/obo/HP_0003765 Psoriasis http://purl.obolibrary.org/obo/HP_0011122 Abnormality of Skin Physiology A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). http://purl.obolibrary.org/obo/HP_0003774 End Stage Kidney Disease http://purl.obolibrary.org/obo/SCDO_0000226 Chronic Kidney Disease A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine, greater than 3 months. http://purl.obolibrary.org/obo/HP_0004312 Abnormality of Reticulocytes http://purl.obolibrary.org/obo/HP_0001877 Abnormal Erythrocyte Morphology A reticulocyte abnormality. http://purl.obolibrary.org/obo/HP_0004364 Abnormal Circulating Nitrogen Compound Concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal Circulating Metabolite Concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. http://purl.obolibrary.org/obo/HP_0004379 Abnormality of Alkaline Phosphatase Level http://purl.obolibrary.org/obo/HP_0012379 Abnormal Enzyme/Coenzyme Activity An abnormality of alkaline phosphatase level. http://purl.obolibrary.org/obo/HP_0004447 Poikilocytosis http://purl.obolibrary.org/obo/HP_0001877 Abnormal Erythrocyte Morphology The presence of abnormally shaped erythrocytes. http://purl.obolibrary.org/obo/HP_0004586 Biconcave Vertebral Bodies http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. http://purl.obolibrary.org/obo/HP_0008404 Nail Dystrophy http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the Integument Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. http://purl.obolibrary.org/obo/HP_0009830 Peripheral Neuropathy http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. http://purl.obolibrary.org/obo/HP_0010628 Facial Nerve Palsy http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the Face Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. http://purl.obolibrary.org/obo/HP_0010876 Abnormal Circulating Protein Level http://purl.obolibrary.org/obo/HP_0032180 Abnormal Circulating Metabolite Concentration An abnormal level of a circulating protein in the blood. http://purl.obolibrary.org/obo/HP_0011007 Age of Onset http://purl.obolibrary.org/obo/NCIT_C43646 Association The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/HP_0011014 Abnormal Glucose Homeostasis http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis Abnormality of glucose homeostasis. http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of Cardiovascular System Abnormal functionality of the cardiovascular system. http://purl.obolibrary.org/obo/HP_0011121 Abnormality of Skin Morphology http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the Skin Any morphological abnormality of the skin. http://purl.obolibrary.org/obo/HP_0011122 Abnormality of Skin Physiology http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the Skin Any abnormality of the physiological function of the skin. http://purl.obolibrary.org/obo/HP_0011675 Arrhythmia http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. http://purl.obolibrary.org/obo/HP_0011873 Abnormal Platelet Count http://purl.obolibrary.org/obo/HP_0001872 Abnormal Thrombocyte Morphology Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. http://purl.obolibrary.org/obo/HP_0011893 Abnormal Leukocyte Count http://purl.obolibrary.org/obo/SCDO_1000612 Abnormal Leukocyte Morphology Number of leukocytes per volume of blood beyond normal limits. http://purl.obolibrary.org/obo/HP_0011991 Abnormal Neutrophil Count http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the Immune System A deviation from the normal range of neutrophil cell counts in the circulation. http://purl.obolibrary.org/obo/HP_0012100 Abnormal Circulating Creatinine Level http://purl.obolibrary.org/obo/HP_0004364 Abnormal Circulating Nitrogen Compound Concentration An abnormal concentration of creatinine in the blood. http://purl.obolibrary.org/obo/HP_0012243 Abnormal Reproductive System Morphology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the Genital System A structural or developmental anomaly of any of the tissues involved in the genital system. http://purl.obolibrary.org/obo/HP_0012444 Atrophic Brain http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology Partial or complete wasting (loss) of brain tissue that was once present. http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the Nervous System A functional anomaly of the nervous system. http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the Nervous System A structural anomaly of the nervous system. http://purl.obolibrary.org/obo/HP_0200042 Skin Ulcer http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications A discontinuity of the skin exhibiting loss of the epidermis and often portions of the dermis and subcutaneous fat. http://purl.obolibrary.org/obo/GAZ_00000448 Geographic Location http://purl.obolibrary.org/obo/SCDO_0000897 Physical Environment A reference to a place on the Earth, by its name or by its geographical location. http://purl.obolibrary.org/obo/IDO_0000586 Infection http://purl.obolibrary.org/obo/DOID_4 Disease A part of an extended organism that itself has as part a population of one or more infectious agents and that (1) exists as a result of processes initiated by members of the infectious agent population and is (2) clinically abnormal in virtue of the presence of this infectious agent population, or (3) has a disposition to bring clinical abnormality to immunocompetent organisms of the same Species as the host (the organism corresponding to the extended organism) through transmission of a member or offspring of a member of the infectious agent population. http://purl.obolibrary.org/obo/OBI_0000185 Imaging Assay http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay An assay that produces a picture of an entity. http://purl.obolibrary.org/obo/OBI_0000626 DNA Sequencing http://purl.obolibrary.org/obo/SCDO_0000448 Genetic Technique A sequencing process which uses deoxyribonucleic acid as input and results in a the creation of DNA sequence information artifact using a DNA sequencer instrument. http://purl.obolibrary.org/obo/OBI_0000925 Infectious Agent http://purl.obolibrary.org/obo/SCDO_0000435 Environmental Disease Modifier A material entity bearing the disposition to infect an organism http://purl.obolibrary.org/obo/OBI_0000990 Electron Microscope http://purl.obolibrary.org/obo/OBI_0400169 Microscope A microscope that produces an image of an object by targeting it with an electron beam. http://purl.obolibrary.org/obo/OBI_0001098 Ultrasound Machine http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device A device that is used to visualize subcutaneous body structures including tendons, muscles, joints, vessels and internal organs. http://purl.obolibrary.org/obo/OBI_0001138 X-Ray Machine http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device A device that is used to generate X-rays. http://purl.obolibrary.org/obo/OBI_0200198 Tandem Mass Spectrometry http://purl.obolibrary.org/obo/SCDO_0000216 Chemical Assay A data transformation that uses two or more analyzers separated by a region in which ions can be induced to fragment by transfer of energy (frequently by collision with other molecules). http://purl.obolibrary.org/obo/OBI_0400115 Spectrophotometer http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance. http://purl.obolibrary.org/obo/OBI_0400169 Microscope http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device A microscope is an instrument which magnifies the view on objects (too small to be viewed by the naked eye) under increased resolution. A microscope can be an optical instrument but also and electronic instrument. There are various kind of optical microscopes, e.g confocal microscope, epifluoresence microscope). http://purl.obolibrary.org/obo/OBI_1110053 Cancer http://purl.obolibrary.org/obo/SCDO_0000267 Comorbid Disease A disease characterized by abnormal and uncontrolled cell division. http://purl.obolibrary.org/obo/OGMS_0000023 Phenotype http://purl.obolibrary.org/obo/SCDO_0001000 SCDO A (combination of) quality(ies) of an organism determined by the interaction of its genetic make-up and environment that differentiates specific instances of a species from other instances of the same species. http://purl.obolibrary.org/obo/UO_0000001 Length Unit http://purl.obolibrary.org/obo/UO_0000000 Unit of Measurement A unit which is a standard measure of the distance between two points. http://purl.obolibrary.org/obo/UO_0000002 Mass Unit http://purl.obolibrary.org/obo/UO_0000000 Unit of Measurement A unit which is a standard measure of the amount of matter/energy of a physical object. http://purl.obolibrary.org/obo/UO_0000005 Temperature Unit http://purl.obolibrary.org/obo/UO_0000000 Unit of Measurement A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter. http://purl.obolibrary.org/obo/UO_0000009 Kilogram http://purl.obolibrary.org/obo/UO_0000002 Mass Unit A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France. http://purl.obolibrary.org/obo/UO_0000015 Centimeter http://purl.obolibrary.org/obo/UO_0000001 Length Unit A length unit which is equal to one hundredth of a meter or 10^[-2] m. http://purl.obolibrary.org/obo/UO_0000025 pg http://purl.obolibrary.org/obo/UO_0000002 Mass Unit A mass unit which is equal to 10^[-12] g. http://purl.obolibrary.org/obo/UO_0000051 Concentration Unit http://purl.obolibrary.org/obo/UO_0000000 Unit of Measurement A unit which represents a standard measurement of how much of a given substance there is mixed with another substance. http://purl.obolibrary.org/obo/UO_0000095 Volume Unit http://purl.obolibrary.org/obo/UO_0000000 Unit of Measurement A unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas. http://purl.obolibrary.org/obo/UO_0000109 Pressure Unit http://purl.obolibrary.org/obo/UO_0000000 Unit of Measurement A unit which is a standard measure of the force applied to a given area. http://purl.obolibrary.org/obo/UO_0000280 Rate Unit http://purl.obolibrary.org/obo/UO_0000000 Unit of Measurement A unit which represents a standard measurement occurrence of a process per unit time. http://purl.obolibrary.org/obo/VO_0000001 Vaccine http://purl.obolibrary.org/obo/SCDO_0000930 Infection Prophylaxis A vaccine is a processed material with the function that when administered, it prevents or ameliorates a disorder in a target organism by inducing or modifying adaptive immune responses specific to the antigens in the vaccine. http://purl.obolibrary.org/obo/DRON_00017565 Xylometazoline http://purl.obolibrary.org/obo/SCDO_0000791 Nasal Decongestants A nasal vasoconstricting decongestant drug which acts by binding to the same receptors as adrenaline. It is applied as a spray or as drops into the nose to ease inflammation and congestion of the nasal passageways. It binds alpha-adrenergic receptors to activate the adrenal system which causes systemic vasoconstriction, thereby easing nasal congestion. http://purl.obolibrary.org/obo/NCIT_C25191 Person Name http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first. http://purl.obolibrary.org/obo/NCIT_C25460 Consent http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute Permission to do something. http://purl.obolibrary.org/obo/NCIT_C70817 Study Protocol http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics The formal plan of an experiment or research activity, including the objective, rationale, design, materials and methods for the conduct of the study; intervention description, and method of data analysis. http://purl.obolibrary.org/obo/NCIT_C74096 Voluntary http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics Of your own free will or design; not forced or compelled; controlled by individual volition. http://purl.obolibrary.org/obo/NCIT_C75434 Hemoglobin Subunit Alpha http://purl.obolibrary.org/obo/SCDO_1000105 Alpha-Globin Family Members Hemoglobin subunit alpha (142 aa, ~15 kDa) is encoded by both the human HBA1 and human HBA2 genes. This protein plays a role in the distribution of oxygen from the lungs to other organs and tissues. http://purl.obolibrary.org/obo/NCIT_C75583 Slit-Lamp Examination http://purl.obolibrary.org/obo/NCIT_C38060 Eye Examination Examination of the anterior segment of the eye using a medical instrument called a slit lamp. http://purl.obolibrary.org/obo/NCIT_65495 Duloxetine http://purl.obolibrary.org/obo/CHEBI_23888 Drug A drug used to treat depression and peripheral neuropathy (pain, numbness, tingling, burning, or weakness in the hands or feet) that can occur with diabetes. http://purl.obolibrary.org/obo/SCDO_0000006 Ability to Carry Out Activities of Daily Living http://purl.obolibrary.org/obo/SCDO_0000900 Physical Functioning The performance of the basic activities of self care, such as dressing, ambulation, or eating. http://purl.obolibrary.org/obo/SCDO_0000007 Abnormal Hemoglobin in SCD http://purl.obolibrary.org/obo/SCDO_1000060 SCD Molecular Phenotype A structurally abnormal hemoglobin that occurs in one or more forms of Sickle Cell Disease (SCD). http://purl.obolibrary.org/obo/SCDO_0000008 deprecated Abnormality of Erythrocytes http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Abnormality in structure and function of the Red Blood Cell. http://purl.obolibrary.org/obo/SCDO_0000010 Acetaminophen http://purl.obolibrary.org/obo/SCDO_0000809 Non Opioid Analgesic antipyretic derivative of acetanilide. It has weak anti-inflammatory properties and is used as a common analgesic, but may cause liver, blood cell, and kidney damage. http://purl.obolibrary.org/obo/SCDO_0000016 Acute Complications of Sickle Cell Disease http://purl.obolibrary.org/obo/NCIT_C2959 Complication A condition that co-exists or follows from sickle cell disease and that has a severe and rapid onset of symptoms with short duration. http://purl.obolibrary.org/obo/SCDO_0000018 Acute Non-Specific Wheezing Episode http://purl.obolibrary.org/obo/SCDO_1000000 Acute Phenotype An acute onset of wheezing in a person with SCD who has no co-morbid asthma. http://purl.obolibrary.org/obo/SCDO_0000019 Acute Sickle Cell Pain Management http://purl.obolibrary.org/obo/SCDO_0001052 Sickle Cell Pain Management Sickle cell pain management that aims to heal the acute process. http://purl.obolibrary.org/obo/SCDO_0000021 Acute Upper Respiratory Tract Infection http://purl.obolibrary.org/obo/IDO_0000586 Infection An acute respiratory illness with no lower respiratory tract signs or infiiltrate on chest radiograph. http://purl.obolibrary.org/obo/SCDO_0000026 Adult Migraine Questionnaire http://purl.obolibrary.org/obo/SCDO_0000760 Migraine Questionnaire A 20-item questionnaire that assesses the frequency of severe headaches, the level of pain, whether the person is taking medications, and associated complications such as nausea. http://purl.obolibrary.org/obo/SCDO_0000028 Adverse Drug Event http://purl.obolibrary.org/obo/SCDO_1000093 Adverse Event (AE) An adverse event that occurs after a drug administration. http://purl.obolibrary.org/obo/SCDO_0000029 Agarose Gel Electrophoresis http://purl.obolibrary.org/obo/SCDO_0000424 Electrophoresis Electrophoresis in which agar or agarose gel is used as the diffusion medium. http://purl.obolibrary.org/obo/SCDO_0000032 Agenesis of Corpus Callosum http://purl.obolibrary.org/obo/HP_0002060 Abnormality of the Cerebrum A rare congenital disorder characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. It can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. http://purl.obolibrary.org/obo/SCDO_0000034 Alanine Aminotransferase Blood Test http://purl.obolibrary.org/obo/NCIT_C74954 Liver Function Test A quantitative measurement of alanine aminotransferase present in a blood sample. http://purl.obolibrary.org/obo/SCDO_0000037 Albuminuria http://purl.obolibrary.org/obo/SCDO_0000932 Proteinuria Increased concentration of albumin in the urine; more than 30mg in 24hours or urine albumin creatinine ratio (ACR) >3 mg/mmol. http://purl.obolibrary.org/obo/SCDO_0000038 Alcohol - Lifetime Use http://purl.obolibrary.org/obo/NCIT_C81229 Alcohol Use History An indication of whether the respondent has ever consumed any alcoholic beverage during his or her entire life. http://purl.obolibrary.org/obo/SCDO_0000042 Alpha Thalassemia http://purl.obolibrary.org/obo/NCIT_C35069 Thalassemia A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. A hemoglobinopathy with two clinically significant forms: hemoglobin Bart hydrops fetalis (deletion of all 4 alpha-globin genes; --/--) which is severe and often results in neonatal death; and hemoglobin H disease (most commonly caused by deletion of 3 alpha-globin genes; --/-alpha) which results in hemolytic anemia, splenomegaly and bone changes. http://purl.obolibrary.org/obo/SCDO_0000046 Alpha-Globin Locus http://purl.obolibrary.org/obo/SCDO_0000456 Globin Locus A region of chromosome 16 that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. It is responsible for the creation of the alpha parts (roughly half) of the oxygen transport protein Hemoglobin. http://purl.obolibrary.org/obo/SCDO_0000049 Analgesia http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics Methods of pain relief that may be used with or in place of analgesics. http://purl.obolibrary.org/obo/SCDO_0000050 Analgesic http://purl.obolibrary.org/obo/CHEBI_23888 Drug A compound capable of relieving pain without the loss of consciousness. http://purl.obolibrary.org/obo/SCDO_0000053 Anesthetic Complication AE http://purl.obolibrary.org/obo/SCDO_0000028 Adverse Drug Event An adverse drug event that results in unexpected and unwanted events due to anesthetic drug treatment. http://purl.obolibrary.org/obo/SCDO_0000054 Angioid Streaks http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye Grayish, brown, or dark red streaks caused by cracks in Bruch's membrane that are histologically characterized by calcium deposition. Angioid streaks are most characteristic of sickle cell anemia and can occur to a lesser extent in other sickle cell syndromes, but not in sickle cell trait. http://purl.obolibrary.org/obo/SCDO_0000055 Angiotensin-Converting Enzyme Inhibitors http://purl.obolibrary.org/obo/SCDO_0000067 Antihypertensive Agents A class of drugs whose main indications are the treatment of hypertension and heart failure. They exert their hemodynamic effect mainly by inhibiting the renin-angiotensin system. They also modulate sympathetic nervous system activity and increase prostaglandin synthesis. They cause mainly vasodilation and mild natriuresis without affecting heart rate and contractility. http://purl.obolibrary.org/obo/SCDO_0000056 Annual Family Income http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The respondent's total family income from the last calendar year. http://purl.obolibrary.org/obo/SCDO_0000057 Anti-Inflammatory Agent http://purl.obolibrary.org/obo/SCDO_0000809 Non Opioid Substance that reduces or suppresses inflammation. http://purl.obolibrary.org/obo/SCDO_0000067 Antihypertensive Agents http://purl.obolibrary.org/obo/CHEBI_23888 Drug Used in the treatment of acute or chronic vascular hypertension regardless of pharmacological mechanism. Among the antihypertensive agents are diuretics; (especially diuretics, thiazide); adrenergic aeta-antagonists; adrenergic alpha-antagonistics; angiotensin-converting enzyme inhibitors; calcium channel blockers; ganglionic blockers; and vasodilator agents. http://purl.obolibrary.org/obo/SCDO_0000069 APOL1 http://purl.obolibrary.org/obo/SCDO_0000810 Non-Globin Gene This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Variants in the APOL1 gene can influence susceptibility to end-stage renal disease and Trypanosomiasis (African Sleeping Sickness). http://purl.obolibrary.org/obo/SCDO_0000070 Aquatic Rehabilitation http://purl.obolibrary.org/obo/SCDO_0000978 Rehabilitation Exercises performed in or underwater for conditioning or rehabilitation (e.g., in injured athletes or patients with joint diseases). http://purl.obolibrary.org/obo/SCDO_0000071 Arterial Blood Gas Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A hematology assay that measures the acidity (pH) and the levels of oxygen and carbon dioxide in the blood from an artery. This test is used to check how well the lungs are able to move oxygen into the blood and remove carbon dioxide from the blood. http://purl.obolibrary.org/obo/SCDO_0000078 deprecated ASCQ-Me Score http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms The score obtained from the Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me). http://purl.obolibrary.org/obo/SCDO_0000079 Aspartate Aminotransferase Blood Test http://purl.obolibrary.org/obo/NCIT_C74954 Liver Function Test A bioassay to measure levels of aspartate aminotransferase (AST), which is released into the blood following tissue damage. http://purl.obolibrary.org/obo/SCDO_0000080 Aspartate Aminotransferase Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of aspartate aminotransferase present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_0000081 ASCQ-Me - Quality of Care in SCD http://purl.obolibrary.org/obo/SCDO_0000947 Quality of Care Measure A set of 27 questions administered to adults with sickle cell disease (SCD) to determine the quality of care that they have received from health care providers. http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay http://purl.obolibrary.org/obo/SCDO_1000032 Diagnostic Tool A planned process with the objective of producing diagnostic information about the material entity that is the evaluant, by physically examining it or its proxies. http://purl.obolibrary.org/obo/SCDO_0000084 Assessment of Short-Axis Cardiac Function by MRI http://purl.obolibrary.org/obo/NCIT_C16809 Magnetic Resonance Imaging This measure is a magnetic resonance imaging (MRI) method of capturing an individual's heart performance, and is considered the gold standard for capturing ventricular volumes and mass. It is used to detect cardiac abnormalities, such as cardiomyopathies, myocardial fibrosis, and infarction. http://purl.obolibrary.org/obo/SCDO_0000086 Asthma http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications A form of bronchial disorder with three distinct components: airway hyper-responsiveness, airway inflammation, and intermittent airway obstruction. It is characterized by spasmodic contraction of airway smooth muscle, wheezing and dyspnea. http://purl.obolibrary.org/obo/SCDO_0000088 Atopic Dermatitis http://purl.obolibrary.org/obo/HP_0011123 Skin Inflammation A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. http://purl.obolibrary.org/obo/SCDO_0000094 BCL11A http://purl.obolibrary.org/obo/SCDO_0000810 Non-Globin Gene This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. http://purl.obolibrary.org/obo/SCDO_0000102 Beck Anxiety Inventory (BAI) http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument The BAI is the most widely used instument for measuring anxiety. It consists of 21 items to assess how bothersome a symptom of anxiety has been for the subject over the past month. Scoring the BAI is based on a 0-3 point scale with higher scores indicating severity. http://purl.obolibrary.org/obo/SCDO_0000104 Behavior Rating Inventory of Executive Function http://purl.obolibrary.org/obo/SCDO_0001304 Executive Function Measure The Behavior Rating Inventory of Executive Function (BRIEF) is a detailed questionnaire designed to assess executive function behaviors of children and adolescents in the school and home environments. The BRIEF is completed by parents and teachers. http://purl.obolibrary.org/obo/SCDO_0000106 Behaviour http://purl.obolibrary.org/obo/SCDO_0000746 Mental Health The actions or reactions of a person in response to a situation or stimuli. http://purl.obolibrary.org/obo/SCDO_0000108 Beliefs About Remedies and Treatment http://purl.obolibrary.org/obo/SCDO_0000488 Health Beliefs Personal or collective understanding of what can remedy or treat illness. http://purl.obolibrary.org/obo/SCDO_0000110 Beta Minus Thalassemia http://purl.obolibrary.org/obo/SCDO_0000111 Beta Thalassemia A beta-thalassemia caused by the reduced (beta-) synthesis of the beta globin chains of the hemoglobin (Hb) tetramer. http://purl.obolibrary.org/obo/SCDO_0000111 Beta Thalassemia http://purl.obolibrary.org/obo/NCIT_C35069 Thalassemia A hemoglobinopathy characterized by the reduced (beta plus) or absent (beta zero) synthesis of the beta globin chains of hemoglobin, resulting in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. http://purl.obolibrary.org/obo/SCDO_0000112 Beta Thalassemia Intermedia http://purl.obolibrary.org/obo/SCDO_0000251 Clinical Phenotype of Beta Thalassemia A homozygous (B+/B+) or compound heterozygous (B0/B+) form of beta-thalassemia characterized by mild to moderate anemia which does not or only occasionally requires transfusion. http://purl.obolibrary.org/obo/SCDO_0000113 Beta Thalassemia Major http://purl.obolibrary.org/obo/SCDO_0000251 Clinical Phenotype of Beta Thalassemia A severe early-onset form of beta thalassemia characterized by severe anemia requiring regular red blood cell transfusions. http://purl.obolibrary.org/obo/SCDO_0000117 Beta-Globin Haplotype http://purl.obolibrary.org/obo/NCIT_C63547 Haplotype Defined arrays of polymorphic gene sites that are inherited together across the genetic vicinity of the beta-globin gene or gene cluster on chromosome 11. http://purl.obolibrary.org/obo/SCDO_0000120 Biochemical Assay http://purl.obolibrary.org/obo/SCDO_0000216 Chemical Assay An analytical in vitro procedure used to detect, quantify and/or study the binding or activity of a biological molecule, such as an enzyme. http://purl.obolibrary.org/obo/SCDO_0000123 Birthplace http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The country in which the respondent was born. http://purl.obolibrary.org/obo/SCDO_0000124 Birthplace of Biological Father http://purl.obolibrary.org/obo/SCDO_0000129 Birthplace of Parents The country in which the respondent's biological father was born. http://purl.obolibrary.org/obo/SCDO_0000125 Birthplace of Biological Mother http://purl.obolibrary.org/obo/SCDO_0000129 Birthplace of Parents The country in which the respondent's biological mother was born. http://purl.obolibrary.org/obo/SCDO_0000126 Birthplace of Grandparents http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The country or countires in which the respondent's biological grandparents were born. http://purl.obolibrary.org/obo/SCDO_0000127 Birthplace of Maternal Grandfather http://purl.obolibrary.org/obo/SCDO_0000126 Birthplace of Grandparents The country in which the respondent's biological maternal (on the mother's side of the family) grandfather was born. http://purl.obolibrary.org/obo/SCDO_0000128 Birthplace of Maternal Grandmother http://purl.obolibrary.org/obo/SCDO_0000126 Birthplace of Grandparents The country in which the respondent's biological maternal (on the mother's side of the family) grandmother was born. http://purl.obolibrary.org/obo/SCDO_0000129 Birthplace of Parents http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The country or countires in which the respondent's biological parents were born. http://purl.obolibrary.org/obo/SCDO_0000130 Birthplace of Paternal Grandfather http://purl.obolibrary.org/obo/SCDO_0000126 Birthplace of Grandparents The country in which the respondent's biological paternal (on the father's side of the family) grandfather was born. http://purl.obolibrary.org/obo/SCDO_0000131 Birthplace of Paternal Grandmother http://purl.obolibrary.org/obo/SCDO_0000126 Birthplace of Grandparents The country in which the respondent's biological paternal (on the father's side of the family) grandmother was born. http://purl.obolibrary.org/obo/SCDO_0000132 Black Sunburst Lesion http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye Black lesions in the retina that form at the border of perfused and nonperfused retina that are caused by the migration of hyperplastic retinal pigment epithelial cells into sensory retina. The sensory retina surrounding the lesion is atrophic. http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay Test used in the analysis of the hemic system. http://purl.obolibrary.org/obo/SCDO_0000138 Blood Component Transfusion http://purl.obolibrary.org/obo/SCDO_0000147 Blood Transfusion The transfer of blood components such as erythrocytes, leukocytes, platelets, and plasma from a donor to a recipient or back to the donor. This process differs from the procedures undertaken in plasmapheresis and types of cytapheresis; (plateletpheresis and leukapheresis) where, following the removal of plasma or the specific cell components, the remainder is transfused back to the donor. http://purl.obolibrary.org/obo/SCDO_0000139 Blood Culture http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test Test to determine the presence of blood infection (e.g. sepsis; bacteremia). http://purl.obolibrary.org/obo/SCDO_0000147 Blood Transfusion http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed) http://purl.obolibrary.org/obo/SCDO_0000149 Body Height http://purl.obolibrary.org/obo/CMO_0000011 Whole Body Morphological Measurement The distance from the sole to the crown of the head with body standing on a flat surface and fully extended. http://purl.obolibrary.org/obo/SCDO_0000152 Body Weight http://purl.obolibrary.org/obo/CMO_0000011 Whole Body Morphological Measurement The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. http://purl.obolibrary.org/obo/SCDO_0000155 deprecated-Bone Sclerosis http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype An abnormal hardening or increased density of bone tissue. http://purl.obolibrary.org/obo/SCDO_0000156 Brachial Artery Ultrasound Imaging http://purl.obolibrary.org/obo/SCDO_0001228 Endothelial Function Test A noninvasive method to assess the endothelial dysfunction in the brachial artery. http://purl.obolibrary.org/obo/SCDO_0000161 Brain Electrical Activity http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement Voltages between parts of the brain that are detectable with an electroencephalograph. http://purl.obolibrary.org/obo/SCDO_0000162 Breakthrough Pain http://purl.obolibrary.org/obo/SCDO_0000233 Chronic Sickle Cell Pain An episode of severe pain that occurs with rapid onset even when pain-control medication is being used. Breakthrough pain can occur spontaneously or in relation to a specific activity, and can last from a few seconds to a few hours. http://purl.obolibrary.org/obo/SCDO_0000163 Brief Illness Perception Questionnaire (B-IPQ) http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure The Brief IPQ has 9 items, 8 new items from the IPQ plus a causal question. All of the items except the causal question are rated using a 0-to-10-response scale. Five of the items assess Cognitive Illness Representations: Consequences (Item 1), Timeline (Item 2), Personal Control (Item 3), Treatment Control (Item 4), and Identity (Item 5). Two of the items assess Emotional Representations: Concern (Item 6) and Emotions (Item 8). One item assesses Illness Comprehensibility (Item 7). Assessment of the Causal Representation is by an open-ended response item adapted, which asks patients to list the three most important causal factors in their illness (Item 9). Responses to the causal item can be grouped into categories such as stress, lifestyle, hereditary, etc, determined by the particular illness studied, and categorical analysis can then be performed. http://purl.obolibrary.org/obo/SCDO_0000164 Brief RCOPE http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure Brief RCOPE is a 14-item instrument that measures religious coping with major life stressors. Responses on the Brief RCOPE indicate the frequency with which participants have used R/S coping behaviors on a Likert scale of 1 (not at all) to 4 (a great deal.) The scale has been used to examine positive and negative religious coping, including in teens with SCD. http://purl.obolibrary.org/obo/SCDO_0000165 Bronchodilator Responsiveness http://purl.obolibrary.org/obo/CMO_0000094 Respiratory System Measurement The improvement of forced expiratory volume in 1 second (FEV1) after inhalation of beta2-agonists and is typically measured as the change in airflow after the administration of short-acting beta2-adrenergic agonists (SABAs). http://purl.obolibrary.org/obo/SCDO_0000166 Bronchodilator Responsiveness Test http://purl.obolibrary.org/obo/SCDO_0000942 Pulmonary Function Test A test to assess an individual's change in pulmonary function in response to inhaled bronchodilator medications. http://purl.obolibrary.org/obo/SCDO_0000182 Capillary Electrophoresis http://purl.obolibrary.org/obo/SCDO_0000424 Electrophoresis A highly-sensitive (in the picomolar range, which is 10,000-fold more sensitive than conventional electrophoresis) and efficient technique that allows separation of proteins; nucleic acids; and carbohydrates. (Segen, Dictionary of Modern Medicine, 1992) http://purl.obolibrary.org/obo/SCDO_0000183 Cardioscope http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device An instrument which, by means of a cathode-ray oscillograph, projects an electrocardiographic record on a luminous screen. http://purl.obolibrary.org/obo/SCDO_0000187 deprecated Cardiovascular System http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'Anatomical system that has as its parts the heart and blood vessels. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000188 obsolete Case Reports http://purl.obolibrary.org/obo/SCDO_0000941 obsolete Publication Type 'Clinical presentations that may be followed by evaluative studies that eventually lead to a diagnosis. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000189 Case-Control Studies http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group. http://purl.obolibrary.org/obo/SCDO_0000190 Catheter http://purl.obolibrary.org/obo/SCDO_0001150 Therapeutic Device A flexible, tubular device that is used to carry fluids into or from a blood vessel, hollow organ, or body cavity. http://purl.obolibrary.org/obo/SCDO_0000191 Causal Adverse Drug Event http://purl.obolibrary.org/obo/SCDO_0000028 Adverse Drug Event A drug adverse event that is caused by a drug administration. Here a causal effect is established between the drug administration and the adverse event. http://purl.obolibrary.org/obo/SCDO_0000192 Causal Adverse Drug Event Due to Drug-Drug Interaction http://purl.obolibrary.org/obo/SCDO_0000191 Causal Adverse Drug Event A causal adverse drug event that is induced by a drug-drug interaction. http://purl.obolibrary.org/obo/SCDO_0000193 Causal Adverse Drug Event Due to Food-Drug Interaction http://purl.obolibrary.org/obo/SCDO_0000191 Causal Adverse Drug Event A causal adverse drug event that is induced by a food-drug interaction. http://purl.obolibrary.org/obo/SCDO_0000198 Cell Free Hemoglobin Blood Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test The determination of the amount of free hemoglobin present in a sample. http://purl.obolibrary.org/obo/SCDO_0000199 Cell Free Hemoglobin Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The level of hemoglobin external to erythrocytes in a biological specimen. http://purl.obolibrary.org/obo/SCDO_0000206 Cerebral Collateral Flow http://purl.obolibrary.org/obo/SCDO_0000213 Cerebrovascular Hemodynamics Cerebral collateral circulation is a subsidiary vascular network which is dynamically recruited after arterial occlusion and may provide residual blood flow to ischemic areas. http://purl.obolibrary.org/obo/SCDO_0000208 Cerebral Function Assay http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay A test of how well the cerebrum is functioning. http://purl.obolibrary.org/obo/SCDO_0000213 Cerebrovascular Hemodynamics http://purl.obolibrary.org/obo/CMO_0000195 Blood Flow Measurement The movement and the forces involved in the movement of the blood through the blood vessels in the brain. http://purl.obolibrary.org/obo/SCDO_0000216 Chemical Assay http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay The analysis of a sample material, called an analyte, using a set of chemical procedures. http://purl.obolibrary.org/obo/SCDO_0000217 Chest X-Ray http://purl.obolibrary.org/obo/SCDO_0000963 Radiography A medical imaging assessment of the chest wall, airways, lungs, pulmonary vessels, heart, mediastinum, and pleura. http://purl.obolibrary.org/obo/SCDO_0000218 Child Health Questionnaire (CHQ) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The Child Health Questionnaire (CHQ) is a family of general quality of life surveys that measures 14 unique physical and psychosocial concepts. The parent form is available in 2 lengths - the CHQ-PF50 and the CHQ-PF28. The child self-reported version of the CHQ consists of 87 items (CHQ-CF87). http://purl.obolibrary.org/obo/SCDO_0000219 Child-Reported Parental Education Attainment http://purl.obolibrary.org/obo/SCDO_0000305 Current Educational Attainment A parent's highest level of education obtained, as reported by the child. http://purl.obolibrary.org/obo/SCDO_0000220 Children's Depression Inventory 2 (CDI 2) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The CDI-2 is a 27-item self-report scale that helps to assess cognitive, affective and behavioral signs of depression in children and adolescents. Each item is scored on a scale from 0 to 2. http://purl.obolibrary.org/obo/SCDO_0000221 Children's Health Locus of Control Scale (CHLC) http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure A measure that seeks to determine the extent to which children and adolescents believe their own health-related behaviors will influence their health. It is a 20 item scale that contains 3 additional practice items and is a yes or no format. It contains 3 factors: belief in internality, belief in powerful others and belief in chance. There is a shorter 9-item version of the scale which is comparable to the full version and adapted for use in Egyptian children. http://purl.obolibrary.org/obo/SCDO_0000222 Cholecystectomy http://purl.obolibrary.org/obo/SCDO_0001129 Supportive Therapeutics Surgical removal of the gallbladder. http://purl.obolibrary.org/obo/SCDO_0000225 Chronic Complications of Sickle Cell Disease http://purl.obolibrary.org/obo/NCIT_C2959 Complication A condition that co-exists or follows from sickle cell disease and that has a slow, creeping onset, slow progress and long continuance of disease manifestations. http://purl.obolibrary.org/obo/SCDO_0000226 Chronic Kidney Disease http://purl.obolibrary.org/obo/HP_0000084 Kidney Failure Chronic kidney disease (CKD) is defined as either having a glomerular filtration rate (GFR) of <60 mL/min/1.73 mL for >3 months with or without kidney damage or having evidence of kidney damage for 3 months, with or without decreased GFR. http://purl.obolibrary.org/obo/SCDO_0000227 deprecated-Chronic Kidney Injury http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype Is a long-term condition where the kidneys don't work as well as they should. http://purl.obolibrary.org/obo/SCDO_0000228 Chronic Neuropathic Pain http://purl.obolibrary.org/obo/SCDO_0000233 Chronic Sickle Cell Pain Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury. This pain is usually described as burning, numb, tingling, lancinating, shooting, or paroxysmal in nature and is associated with a sensation of pins and needles. Its severity is also enhanced by exposure to either cold or heat. http://purl.obolibrary.org/obo/SCDO_0000229 Chronic Pain in a Specific Tissue or Organ http://purl.obolibrary.org/obo/SCDO_0000233 Chronic Sickle Cell Pain This pain occurs in a specific tissue or organ and is usually described as constant and deep, nagging, and achy in nature. http://purl.obolibrary.org/obo/SCDO_0000230 Chronic Pain often Unclear Etiology http://purl.obolibrary.org/obo/SCDO_0000233 Chronic Sickle Cell Pain The only complaint is the patient's self-report of pain that does not go away. http://purl.obolibrary.org/obo/SCDO_0000232 Chronic Restrictive Lung Disease http://purl.obolibrary.org/obo/SCDO_0001334 Chronic Phenotype Restrictive lung disease is a category of extrapulmonary, pleural, or parenchymal respiratory diseases that restrict lung expansion, resulting in a decreased lung volume, an increased work of breathing, and inadequate ventilation and/or oxygenation. Pulmonary function test demonstrates a decrease in the forced vital capacity. http://purl.obolibrary.org/obo/SCDO_0000233 Chronic Sickle Cell Pain http://purl.obolibrary.org/obo/HP_0012532 Chronic Pain Persistent pain in sickle cell disease. In sickle cell disease, persistent pain (pain that has lasted longer than 3 to 6 months) no longer serves as a warning sign. However, the time distinction is arbitrary and the condition may be difficult to distinguish from frequently recurring acute pain. Chronic pain may occur with objective signs of avascular necrosis, arthropathy, arthritis, leg ulcers or vertebral body collapse, or without objective signs, due to neuroplasticity of the peripheral nervous system. http://purl.obolibrary.org/obo/SCDO_0000234 Chronic Sickle Cell Pain Management http://purl.obolibrary.org/obo/SCDO_0001052 Sickle Cell Pain Management Sickle cell pain management that aims to restore function and improve the quality of life. http://purl.obolibrary.org/obo/SCDO_0000235 Cigarette Smoking Status http://purl.obolibrary.org/obo/NCIT_C29719 Smoking History An indication of a person's current cigarette use as well as some indication of cigarette smoking history. http://purl.obolibrary.org/obo/SCDO_0000236 Climate http://purl.obolibrary.org/obo/SCDO_0000897 Physical Environment Meteorological conditions, including temperature, precipitation, and wind, that characteristically prevail in a particular region; includes regions of the earth having particular meteorological conditions. http://purl.obolibrary.org/obo/SCDO_0000245 Clinical Coding http://purl.obolibrary.org/obo/SCDO_0000738 Medical Records Process of substituting a symbol or code for a term such as a diagnosis or procedure. (from Slee's Health Care Terms, 3d ed.) http://purl.obolibrary.org/obo/SCDO_0000246 Clinical Competence http://purl.obolibrary.org/obo/SCDO_0000948 Quality of Health Care The capability to perform acceptably those duties directly related to patient care. http://purl.obolibrary.org/obo/SCDO_0000247 obsolete Clinical Conference http://purl.obolibrary.org/obo/SCDO_0000941 obsolete Publication Type 'Work that consists of a conference of physicians on their observations of a patient at the bedside, regarding the physical state, laboratory and other diagnostic findings, clinical manifestations, results of current therapy, etc. A clinical conference usually ends with a confirmation or correction of clinical findings by a pathological diagnosis performed by a pathologist. Clinical conference is often referred to as a clinico-pathological conference. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000250 Clinical Neuropathy Assessment http://purl.obolibrary.org/obo/SCDO_0000898 Physical Examination A physician administered examination to assess peripheral neuropathy. http://purl.obolibrary.org/obo/SCDO_0000252 obsolete Clinical Study http://purl.obolibrary.org/obo/SCDO_0000941 obsolete Publication Type 'A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000253 Clinical Studies as Topic http://purl.obolibrary.org/obo/SCDO_0300004 Epidemiologic Study Characteristics Works about research studies that evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. http://purl.obolibrary.org/obo/SCDO_0000254 obsolete Clinical Trial http://purl.obolibrary.org/obo/SCDO_0000252 obsolete Clinical Study 'A work that reports on the results of a clinical study in which participants are assigned to receive one or more interventions so that researchers can evaluate the interventions on biomedical or health-related outcomes. The assignments are determined by the study protocol. Participants may receive diagnostic, therapeutic, or other types of interventions. While most clinical trials concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000255 obsolete Clinical Trial, Phase I http://purl.obolibrary.org/obo/SCDO_0000254 obsolete Clinical Trial 'Work that is the report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques based on a small number of healthy persons and conducted over the period of about a year in either the United States or a foreign country. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000256 obsolete Clinical Trial, Phase II http://purl.obolibrary.org/obo/SCDO_0000254 obsolete Clinical Trial 'Work that is a report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques based on several hundred volunteers, including a limited number of patients, and conducted over a period of about two years in either the United States or a foreign country. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000257 obsolete Clinical Trial, Phase IV http://purl.obolibrary.org/obo/SCDO_0000254 obsolete Clinical Trial 'Work that is a report of a planned post-marketing study of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques that have been approved for general sale after clinical trials, phases I, II, and III. These studies, conducted in the United States or a foreign country, often garner additional data about the safety and efficacy of a product. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000258 obsolete Clinical Trial, Phase III http://purl.obolibrary.org/obo/SCDO_0000254 obsolete Clinical Trial 'Work that is a report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques after phase II trials. A large enough group of patients is studied and closely monitored by physicians for adverse response to long-term exposure, over a period of about three years in either the United States or a foreign country. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000259 Clinical Trials as Topic http://purl.obolibrary.org/obo/SCDO_0000253 Clinical Studies as Topic Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries. http://purl.obolibrary.org/obo/SCDO_0000262 Cognitive Therapy http://purl.obolibrary.org/obo/SCDO_0001284 Behaviour Therapy A direct form of psychotherapy based on the interpretation of situations (cognitive structure of experiences) that determine how an individual feels and behaves. It is based on the premise that cognition, the process of acquiring knowledge and forming beliefs, is a primary determinant of mood and behavior. The therapy uses behavioral and verbal techniques to identify and correct negative thinking that is at the root of the aberrant behavior. http://purl.obolibrary.org/obo/SCDO_0000263 Cohort Studies http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics. http://purl.obolibrary.org/obo/SCDO_0000265 Coma http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem reticular formation. http://purl.obolibrary.org/obo/SCDO_0000267 Comorbid Disease http://purl.obolibrary.org/obo/DOID_4 Disease A co-existing or additional disease with reference to an initial diagnosis or with reference to the index condition that is the subject of study. http://purl.obolibrary.org/obo/SCDO_0000268 Comparative Study http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Comparison of outcomes, results, responses, etc for different techniques, therapeutic approaches or other inputs. http://purl.obolibrary.org/obo/SCDO_0000271 Complementary Therapy http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics Therapeutic practices which are not currently considered an integral part of conventional allopathic medical practice. They may lack biomedical explanations but as they become better researched some (physical therapy modalities; diet; acupuncture) become widely accepted whereas others (humors, radium therapy) quietly fade away, yet are important historical footnotes. Therapies are termed as Complementary when used in addition to conventional treatments and as Alternative when used instead of conventional treatment. Year introduced: 2002(1986). http://purl.obolibrary.org/obo/SCDO_0000272 obsolete Compound Heterozygous Hemoglobinopathy http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000276 Conjunctival Comma Sign http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye Dark red, comma- or corkscrew-shaped vascular fragment that appears to be isolated from neighboring blood vessels in the conjunctiva. Normally benign, this lesion can serve as the first diagnostic sign of sickle cell retinopathy. The conjunctival comma sign results from transient vaso-occlusive processes in the microvasculature of bulbar conjunctiva. It is not seen in sickle trait, but is common in SCD. http://purl.obolibrary.org/obo/SCDO_0000277 obsolete Consensus Development Conference http://purl.obolibrary.org/obo/SCDO_0000941 obsolete Publication Type 'A work that consists of summary statements representing the majority and current agreement of physicians, scientists, and other professionals meeting to reach a consensus on a selected subject. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000278 obsolete Consensus Development Conference, NIH http://purl.obolibrary.org/obo/SCDO_0000277 obsolete Consensus Development Conference 'Work consisting of summary statements, from a conference sponsored by NIH, representing the majority of current opinion of physicians, scientists, and other professionals on a selected subject. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000280 Consumer Assessment of Healthcare Providers and Systems (CAHPS) Health Plan Survey 4.0 Child Medicaid Questionnaire http://purl.obolibrary.org/obo/SCDO_0000947 Quality of Care Measure A tool for collecting standardized information on enrollees' experiences with health plans and their services. http://purl.obolibrary.org/obo/SCDO_0000282 Controlled Pre-Post Studies http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies A study in which observations are made before and after an intervention, both in a group that receives the intervention and in a control group that does not. http://purl.obolibrary.org/obo/SCDO_0000283 obsolete Controlled Clinical Trial http://purl.obolibrary.org/obo/SCDO_0000254 obsolete Clinical Trial 'A work that reports on a clinical trial involving one or more test treatments, at least one control treatment, specified outcome measures for evaluating the studied intervention, and a bias-free method for assigning patients to the test treatment. The treatment may be drugs, devices, or procedures studied for diagnostic, therapeutic, or prophylactic effectiveness. Control measures include placebos, active medicine, no-treatment, dosage forms and regimens, historical comparisons, etc. When randomization using mathematical techniques, such as the use of a random numbers table, is employed to assign patients to test or control treatments, the trial is characterized as a randomized controlled trial. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000284 Controlled Clinical Trials as Topic http://purl.obolibrary.org/obo/SCDO_0000259 Clinical Trials as Topic Works about clinical trials involving one or more test treatments, at least one control treatment, specified outcome measures for evaluating the studied intervention, and a bias-free method for assigning patients to the test treatment. The treatment may be drugs, devices, or procedures studied for diagnostic, therapeutic, or prophylactic effectiveness. Control measures include placebos, active medicines, no-treatment, dosage forms and regimens, historical comparisons, etc. When randomization using mathematical techniques, such as the use of a random numbers table, is employed to assign patients to test or control treatments, the trials are characterized as randomized controlled trials as topic. http://purl.obolibrary.org/obo/SCDO_0000286 Coping Skill http://purl.obolibrary.org/obo/SCDO_0000746 Mental Health A state of harmony between internal needs and external demands and the processes used in achieving this condition. http://purl.obolibrary.org/obo/SCDO_0000287 Coping Strategies Questionnaire revised for Sickle Cell Disease (CSQ-SCD) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The CSQ-SCD consists of 78 items, which make up seven scales related to coping with pain in general: Diverting attention, Reinterpreting pain sensations, Calming self-statements, Ignoring pain sensations, Praying and hoping, Catastrophising, and Increasing activity level; together with six scales developed as specifically relevant to sickle cell disease: Fear self-statements, Anger self-statements, Isolation, Taking fluids, Resting, and Heat/cold/massage. Patients rated their use of each response from 0 = never to 6 = always, and scores were averaged to produce a mean for each scale. Two additional aspects were assessed by single items: perceived ability to control pain was rated from 0 = no control to 6 = complete control, and perceived ability to decrease pain was rated from 0 = can't decrease it at all to 6 = can decrease it completely. http://purl.obolibrary.org/obo/SCDO_0000288 Coping Strategies Questionnaire revised for Sickle Cell Disease Children (CSQ-SCD Children) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The CSQ-SCD consists of 78 items, which make up seven scales related to coping with pain in general: Diverting attention, Reinterpreting pain sensations, Calming self-statements, Ignoring pain sensations, Praying and hoping, Catastrophising, and Increasing activity level; together with six scales developed as specifically relevant to sickle cell disease: Fear self-statements, Anger self-statements, Isolation, Taking fluids, Resting, and Heat/cold/massage. Patients rated their use of each response from 0 = never to 6 = always, and scores were averaged to produce a mean for each scale. Two additional aspects were assessed by single items: perceived ability to control pain was rated from 0 = no control to 6 = complete control, and perceived ability to decrease pain was rated from 0 = can't decrease it at all to 6 = can decrease it completely. http://purl.obolibrary.org/obo/SCDO_0000291 Corticosteroid-Induced Adverse Event http://purl.obolibrary.org/obo/SCDO_0000191 Causal Adverse Drug Event A causal adverse drug event that is induced by a corticosteroid. http://purl.obolibrary.org/obo/SCDO_0000292 Corticosteroid-Induced Vaso-Occlusive Adverse Event http://purl.obolibrary.org/obo/SCDO_0000291 Corticosteroid-Induced Adverse Event A corticosteroid-induced adverse event that has the outcome of vaso-occlusion. http://purl.obolibrary.org/obo/SCDO_0000294 Cost of Illness http://purl.obolibrary.org/obo/SCDO_0000746 Mental Health The personal cost of disease which may be economic, social, or psychological. The cost of illness may be reflected in absenteeism, productivity, response to treatment, peace of mind, or quality of life. It differs from health care costs, the societal cost of providing services related to the delivery of health care. http://purl.obolibrary.org/obo/SCDO_0000295 Cost-Effectiveness of Healthcare http://purl.obolibrary.org/obo/SCDO_0000495 Health Utility The extent to which a health intervention can be regarded as providing value for money, based on a cost-effectiveness analysis that compares the costs and health effects of the intervention. This informs decision-makers who have to determine where to allocate limited healthcare resources. http://purl.obolibrary.org/obo/SCDO_0000296 Creatinine Blood Test http://purl.obolibrary.org/obo/SCDO_0000676 Kidney Function Test A bioassay to measure the serum concentration of creatinine, a metabolite of muscle creatine that is filtered out of blood by the kidneys. http://purl.obolibrary.org/obo/SCDO_0000297 Crisis Intervention http://purl.obolibrary.org/obo/SCDO_0000940 Psychotherapy Brief therapeutic approach which is ameliorative rather than curative of acute psychiatric emergencies. Used in contexts such as emergency rooms of psychiatric or general hospitals, or in the home or place of crisis occurrence, this treatment approach focuses on interpersonal and intrapsychic factors and environmental modification. (APA Thesaurus of Psychological Index Terms, 7th ed) http://purl.obolibrary.org/obo/SCDO_0000299 Culture http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life A collective expression for all behaviour patterns acquired and socially transmitted through symbols. Culture includes customs, traditions, and language. http://purl.obolibrary.org/obo/SCDO_0000301 Curative Therapeutics http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics Therapeutics relating to or used in the cure of diseases. http://purl.obolibrary.org/obo/SCDO_0000304 Current Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of time that a person has lived since their birth up until the current day. http://purl.obolibrary.org/obo/SCDO_0000305 Current Educational Attainment http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The respondent's highest level of education at the current time. http://purl.obolibrary.org/obo/SCDO_0000306 Current Employment Status http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The respondent's current employment status. http://purl.obolibrary.org/obo/SCDO_0000310 Blood Cystatin C Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of the protein cystatin C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide) found in a specified sample of blood. This extracellular cystatin subtype is abundantly expressed in bodily fluids. http://purl.obolibrary.org/obo/SCDO_0000311 D57 Sickle-Cell Disorders http://purl.obolibrary.org/obo/SCDO_0000607 ICD-10-CM Diagnosis Codes A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. http://purl.obolibrary.org/obo/SCDO_0000313 D57.01 Hb-SS disease with acute chest syndrome http://purl.obolibrary.org/obo/SCDO_0000312 D57.0 Hb-SS disease with crisis - http://purl.obolibrary.org/obo/SCDO_0000314 D57.02 Hb-SS disease with splenic sequestration http://purl.obolibrary.org/obo/SCDO_0000312 D57.0 Hb-SS disease with crisis - http://purl.obolibrary.org/obo/SCDO_0000315 D57.1 Sickle-cell disease without crisis http://purl.obolibrary.org/obo/SCDO_0000311 D57 Sickle-Cell Disorders - http://purl.obolibrary.org/obo/SCDO_0000316 D57.2 Sickle-cell/Hb-C disease http://purl.obolibrary.org/obo/SCDO_0000311 D57 Sickle-Cell Disorders One of the sickle cell disorders characterized by the presence of both hemoglobin s and hemoglobin c. It is similar to, but less severe than sickle cell anemia. http://purl.obolibrary.org/obo/SCDO_0000318 D57.21 Sickle-cell/Hb-C disease with crisis http://purl.obolibrary.org/obo/SCDO_0000316 D57.2 Sickle-cell/Hb-C disease - http://purl.obolibrary.org/obo/SCDO_0000319 D57.211 Sickle-cell/Hb-C disease with acute chest syndrome http://purl.obolibrary.org/obo/SCDO_0000318 D57.21 Sickle-cell/Hb-C disease with crisis - http://purl.obolibrary.org/obo/SCDO_0000320 D57.212 Sickle-cell/Hb-C disease with splenic sequestration http://purl.obolibrary.org/obo/SCDO_0000318 D57.21 Sickle-cell/Hb-C disease with crisis - http://purl.obolibrary.org/obo/SCDO_0000321 D57.219 Sickle-cell/Hb-C disease with crisis, unspecified http://purl.obolibrary.org/obo/SCDO_0000318 D57.21 Sickle-cell/Hb-C disease with crisis - http://purl.obolibrary.org/obo/SCDO_0000322 D57.3 Sickle-cell trait http://purl.obolibrary.org/obo/SCDO_0000311 D57 Sickle-Cell Disorders The condition of being heterozygous for hemoglobin S. http://purl.obolibrary.org/obo/SCDO_0000323 D57.4 Sickle-cell thalassemia http://purl.obolibrary.org/obo/SCDO_0000311 D57 Sickle-Cell Disorders Hemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene. http://purl.obolibrary.org/obo/SCDO_0000324 D57.40 Sickle-cell thalassemia without crisis http://purl.obolibrary.org/obo/SCDO_0000323 D57.4 Sickle-cell thalassemia - http://purl.obolibrary.org/obo/SCDO_0000325 D57.41 Sickle-cell thalassemia, unspecified, with crisis http://purl.obolibrary.org/obo/SCDO_0000323 D57.4 Sickle-cell thalassemia - http://purl.obolibrary.org/obo/SCDO_0000326 D57.411 Sickle-cell thalassemia, unspecified, with acute chest syndrome http://purl.obolibrary.org/obo/SCDO_0000325 D57.41 Sickle-cell thalassemia, unspecified, with crisis - http://purl.obolibrary.org/obo/SCDO_0000327 D57.412 Sickle-cell thalassemia, unspecified, with splenic sequestration http://purl.obolibrary.org/obo/SCDO_0000325 D57.41 Sickle-cell thalassemia, unspecified, with crisis - http://purl.obolibrary.org/obo/SCDO_0000328 D57.419 Sickle-cell thalassemia, unspecified, with crisis http://purl.obolibrary.org/obo/SCDO_0000325 D57.41 Sickle-cell thalassemia, unspecified, with crisis - http://purl.obolibrary.org/obo/SCDO_0000329 D57.8 Other sickle-cell disorders http://purl.obolibrary.org/obo/SCDO_0000311 D57 Sickle-Cell Disorders - http://purl.obolibrary.org/obo/SCDO_0000331 D57.81 Other sickle-cell disorders with crisis http://purl.obolibrary.org/obo/SCDO_0000329 D57.8 Other sickle-cell disorders - http://purl.obolibrary.org/obo/SCDO_0000332 D57.811 Other sickle-cell disorders with acute chest syndrome http://purl.obolibrary.org/obo/SCDO_0000331 D57.81 Other sickle-cell disorders with crisis - http://purl.obolibrary.org/obo/SCDO_0000333 D57.812 Other sickle-cell disorders with splenic sequestration http://purl.obolibrary.org/obo/SCDO_0000331 D57.81 Other sickle-cell disorders with crisis - http://purl.obolibrary.org/obo/SCDO_0000338 obsolete Protein Molecule http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'Protein molecule are large, complex molecules that play many critical roles in the body. They do most of the work in cells and are required for the structure, function, and regulation of the body's tissues and organs. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000343 Delta Beta Thalassemia http://purl.obolibrary.org/obo/SCDO_0000111 Beta Thalassemia A form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. http://purl.obolibrary.org/obo/SCDO_0000344 Delta Thalassemia http://purl.obolibrary.org/obo/NCIT_C35069 Thalassemia A hereditary disorder characterized by reduced or absent delta-globin thus effecting the level of hemoglobin A2, a minor component of adult hemoglobin monitored in the diagnosis of beta-thalassemia. http://purl.obolibrary.org/obo/SCDO_0000346 Dengue Fever http://purl.obolibrary.org/obo/NCIT_C3439 Viral Infection An acute febrile disease transmitted by the bite of AEDES mosquitoes infected with Dengue Virus. It is self-limiting and characterized by fever, myalgia, headache, and rash. Severe Dengue is a more virulent form of dengue. http://purl.obolibrary.org/obo/SCDO_0000347 deprecated Dental System http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'The system pertaining to teeth, oral cavity, and associated structures. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000360 Depression http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications A common mental disorder, characterized by sadness, hopelessness, loss of interest or pleasure, feelings of guilt or low self-worth, disturbed sleep or appetite, feelings of tiredness, and poor concentration. Depression can be long-lasting or recurrent, substantially impairing an individual's ability to function at work or school or cope with daily life. http://purl.obolibrary.org/obo/SCDO_0000365 Dexterity http://purl.obolibrary.org/obo/SCDO_0000900 Physical Functioning Skill in performing tasks, especially with the hands. http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device http://purl.obolibrary.org/obo/SCDO_0000379 Diagnostics A medical device used to diagnose medical conditions. http://purl.obolibrary.org/obo/SCDO_0000379 Diagnostics http://purl.obolibrary.org/obo/SCDO_0001000 SCDO Diagnostic tools (including the instruments, laboratory assays and methods of patient examination) used for differential diagnosis, the measurements obtained using these tools, and the diagnostic devices used in obtaining the measurements. http://purl.obolibrary.org/obo/SCDO_0000380 Diclofenac http://purl.obolibrary.org/obo/CHEBI_35475 Non-Steroidal Anti-Inflammatory Drug A non-steroidal anti-inflammatory agent (NSAID) with antipyretic and analgesic actions. It is primarily available as the sodium salt. http://purl.obolibrary.org/obo/SCDO_0000382 Diet, Food, and Nutrition http://purl.obolibrary.org/obo/SCDO_0000487 Health Behaviour Concepts involved with nutritional physiology, including categories of substances eaten for sustenance, nutritional phenomena and processes, eating patterns and habits, and measurable nutritional parameters. http://purl.obolibrary.org/obo/SCDO_0000384 Diffusion Capacity of Lung http://purl.obolibrary.org/obo/CMO_0000094 Respiratory System Measurement The amount of a gas taken up, by the pulmonary capillary blood from the alveolar gas, per minute per unit of average pressure of the gradient of the gas across the blood-air barrier. http://purl.obolibrary.org/obo/SCDO_0000385 Diffusion Capacity Test http://purl.obolibrary.org/obo/SCDO_0000942 Pulmonary Function Test Clinical assessment to determine the capacity of an individual's lung to exchange gases (e.g., oxygen and carbon dioxide) across the alveolar-capillary interface. http://purl.obolibrary.org/obo/SCDO_0000386 Disability-Adjusted Life Year (DALY) http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure One DALY can be thought of as one lost year of "healthy" life. The sum of these DALYs across the population, or the burden of disease, can be thought of as a measurement of the gap between current health status and an ideal health situation where the entire population lives to an advanced age, free of disease and disability. http://purl.obolibrary.org/obo/SCDO_0000388 Disaster http://purl.obolibrary.org/obo/SCDO_0000897 Physical Environment Sudden calamitous events producing great material damage, loss, and distress. They are the result of natural phenomena such as earthquakes, floods, etc. Calamities producing great damage, loss of life, and distress. They include results of natural phenomena and man-made phenomena. Normal conditions of existence are disrupted and the level of impact exceeds the capacity of the hazard-affected community. http://purl.obolibrary.org/obo/SCDO_0000391 Disease Modifier http://purl.obolibrary.org/obo/SCDO_0001000 SCDO A factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease. http://purl.obolibrary.org/obo/SCDO_0000397 Drug Clearance Decreased AE http://purl.obolibrary.org/obo/SCDO_0000028 Adverse Drug Event An adverse event that has an outcome of a decreased amount of the drug excreted by the body. http://purl.obolibrary.org/obo/SCDO_0000398 Drug Dependence AE http://purl.obolibrary.org/obo/SCDO_0000028 Adverse Drug Event An adverse drug event that results in the development of a dependence on the drug. http://purl.obolibrary.org/obo/SCDO_0000399 Drug Intake http://purl.obolibrary.org/obo/SCDO_0000487 Health Behaviour The amount of drug substances taken into the body. http://purl.obolibrary.org/obo/SCDO_0000400 Drug Intolerance AE http://purl.obolibrary.org/obo/SCDO_0000028 Adverse Drug Event A drug AE that has an outcome of lower threshold to the normal pharmacologic action of a drug. http://purl.obolibrary.org/obo/SCDO_0000401 Drug Withdrawal Syndrome AE http://purl.obolibrary.org/obo/SCDO_0000028 Adverse Drug Event An adverse event that results in symptoms that occur after the discontinuation of the use of a certain drug. http://purl.obolibrary.org/obo/SCDO_0000402 Drug-Induced Neuropathy AE http://purl.obolibrary.org/obo/SCDO_0000191 Causal Adverse Drug Event A neuropathy AE that is induced by a drug administration. http://purl.obolibrary.org/obo/SCDO_0000405 deprecated Ear, Nose and Throat http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'The combined specialties of diseases of the ear, pharynx, and larynx, including the upper respiratory tract and diseases of the head and neck, tracheobronchial tree, and esophagus. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000407 Ecchymosis http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the Vasculature A small hemorrhagic spot, larger than a petechia, in the skin or mucous membrane forming a nonelevated, rounded or irregular, blue or purplish patch. http://purl.obolibrary.org/obo/SCDO_0000409 Echocardiogram http://purl.obolibrary.org/obo/NCIT_C17230 Ultrasound Test A physiological assay that uses standard ultrasound techniques to take two-dimensional pictures of the cardiovascular system and can produce accurate assessment of the velocity of blood and cardiac tissue at any arbitrary point using pulsed or continuous wave Doppler ultrasound. http://purl.obolibrary.org/obo/SCDO_0000410 Echocardiography Machine http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device A machine used for ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. http://purl.obolibrary.org/obo/SCDO_0000414 Education http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life Acquisition of knowledge as a result of instruction in a formal course of study. http://purl.obolibrary.org/obo/SCDO_0000416 Electrocardiographic Monitor http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device Device which makes prolonged electrocardiographic recordings on a portable tape recorder (Holter-type system) or solid-state device (real-time system), while the patient undergoes normal daily activities; useful in the diagnosis and management of intermittent cardiac arrhythmias and transient myocardial ischemia. http://purl.obolibrary.org/obo/SCDO_0000417 Electrocardiography http://purl.obolibrary.org/obo/SCDO_0000500 Heart Function Test Recording of the moment-to-moment electromotive forces of the heart as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a cathode ray tube display. http://purl.obolibrary.org/obo/SCDO_0000418 Electroencephalogram http://purl.obolibrary.org/obo/SCDO_1000313 Diagnostic Device Visual Output A graphic record of the electrical activity of the brain as recorded by an electroencephalograph. http://purl.obolibrary.org/obo/SCDO_0000419 Electroencephalograph http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device An instrument that measures electrical potentials on the scalp and generates a record of the electrical activity of the brain. http://purl.obolibrary.org/obo/SCDO_0000420 Electroencephalography http://purl.obolibrary.org/obo/SCDO_0000208 Cerebral Function Assay Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain. http://purl.obolibrary.org/obo/SCDO_0000431 deprecated Endocrine and Metabolic http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype The system pertaining to the stomach, intestines, and associated organs including liver, gallbladder, and pancreas. http://purl.obolibrary.org/obo/SCDO_0000435 Environmental Disease Modifier http://purl.obolibrary.org/obo/SCDO_0000391 Disease Modifier An environmental factor that modifies one or more aspects of sickle cell disease (SCD) (such as temporal pattern, age of onset and mortality) for specific phenotype(s) in the Phenotype class. http://purl.obolibrary.org/obo/SCDO_0000436 Enzymatic Assay http://purl.obolibrary.org/obo/SCDO_0000120 Biochemical Assay A method used to measure the relative activity of a specific enzyme or its concentration in solution. Typically an enzyme substrate is added to a buffer solution containing enzyme and the rate of conversion of substrate to product is measured under controlled conditions. Many classical enzymatic assay methods involve the use of synthetic colorimetric substrates and measuring the reaction rates using a spectrophotometer. http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies http://purl.obolibrary.org/obo/SCDO_0006339 Research Studies designed to examine associations, commonly, hypothesized causal relations. They are usually concerned with identifying or measuring the effects of risk factors or exposures. The common types of analytic study are case-control studies; cohort studies; and cross-sectional studies. http://purl.obolibrary.org/obo/SCDO_0000438 deprecated Epidemiologic Study Characteristics as Topic http://purl.obolibrary.org/obo/SCDO_0000990 obsolete Research Activity Types and formulations of studies used in epidemiological and clinical research. http://purl.obolibrary.org/obo/SCDO_0000440 Epilepsy Screener http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to assess epilepsy, a condition characterized by recurrent seizures and which is a component of over 40 neurological disorders (Aminoff, et al., 2005). http://purl.obolibrary.org/obo/SCDO_0000441 General Health Questionnaire (GHQ) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The GHQ is a screening device for identifying minor psychiatric disorders in the general population and within community or non-psychiatric clinical settings such as primary care or general medical outpatients. Suitable for all ages from adolescent upwards (not children), it assesses the respondent's current state and asks if that differs from his or her usual state. It is therefore sensitive to short-term psychiatric disorders but not to long-standing attributes of the respondent. The self-administered questionnaire focuses on two major areas: inability to carry out normal functions; appearance of new and distressing phenomena. It is available in the following versions: GHQ-60 -- the fully detailed 60-item questionnaire; GHQ-30 -- a short form without items relating to physical illness; GHQ-28 -- a 28 item scaled version -- assesses somatic symptoms, anxiety and insomnia, social dysfunction and severe depression; GHQ-12 -- quick, reliable and sensitive short form, ideal for research studies. http://purl.obolibrary.org/obo/SCDO_0000442 Generalised Anxiety Disorder Questionnaire (GAD-7) http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument The GAD-7 is a self-administered patient questionnaire used as a screening tool and severity measure for generalised anxiety disorder. The GAD-7 score is calculated by assigning scores of 0, 1, 2, and 3, to the response categories of 'not at all', 'several days', 'more than half the days', and 'nearly every day', respectively, and adding together the scores for the seven questions. Scores of 5, 10, and 15 are taken as the cut-off points for mild, moderate and severe anxiety, respectively. When used as a screening tool, further evaluation is recommended when the score is 10 or greater. http://purl.obolibrary.org/obo/SCDO_0000443 Genetic Counseling http://purl.obolibrary.org/obo/SCDO_0000447 Genetic Service An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. http://purl.obolibrary.org/obo/SCDO_0000444 Genetic Disease Modifier http://purl.obolibrary.org/obo/SCDO_0000122 Biological Disease Modifier A biological disease modifier that is of a genetic nature. http://purl.obolibrary.org/obo/SCDO_0000447 Genetic Service http://purl.obolibrary.org/obo/SCDO_0000922 Preventative Therapeutics Organized services to provide diagnosis, treatment, and prevention of genetic disorders. http://purl.obolibrary.org/obo/SCDO_0000448 Genetic Technique http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay Chromosomal, biochemical, intracellular, and other methods used in the study of genetics. http://purl.obolibrary.org/obo/SCDO_0000454 Glaucoma (Secondary to Presence of Blood in the Anterior Chamber of the Eye) http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye Elevated ocular pressure caused by clogging of the trabecular meshwork and by impaired aqueous humor outflow from blood in the anterior chamber (due to ocular trauma or surgery). http://purl.obolibrary.org/obo/SCDO_0000456 Globin Locus http://purl.obolibrary.org/obo/SCDO_1000103 Genetic Locus A genetic locus responsible for the encoding of globins. http://purl.obolibrary.org/obo/SCDO_0000457 Glomerular Filtration Rate http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement Measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test. http://purl.obolibrary.org/obo/SCDO_0000462 G6PD http://purl.obolibrary.org/obo/SCDO_0000810 Non-Globin Gene This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. http://purl.obolibrary.org/obo/SCDO_0000465 Growth Delay http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications A deficiency or slowing down of growth pre- and postnatally greater than two standard deviations from the age- and sex-related normal. http://purl.obolibrary.org/obo/SCDO_0000487 Health Behaviour http://purl.obolibrary.org/obo/SCDO_0000435 Environmental Disease Modifier Individual lifestyle and behavior which may or may not enhance or maintain good health. http://purl.obolibrary.org/obo/SCDO_0000488 Health Beliefs http://purl.obolibrary.org/obo/SCDO_0000299 Culture People's beliefs about health problems, perceived benefits of action and barriers to action, and self-efficacy. http://purl.obolibrary.org/obo/SCDO_0000489 Health Financing http://purl.obolibrary.org/obo/SCDO_0000494 Health System Health financing is concerned with how financial resources are generated, allocated and used in health systems. Health financing policy focuses on how to move closer to universal coverage with issues related to: (i) how and from where to raise sufficient funds for health; (ii) how to overcome financial barriers that exclude many poor from accessing health services; or (iii) how to provide an equitable and efficient mix of health services. http://purl.obolibrary.org/obo/SCDO_0000491 Health Literacy http://purl.obolibrary.org/obo/SCDO_0000286 Coping Skill Degree to which individuals have the capacity to obtain, process and understand basic health information and services needed to make appropriate health decisions. http://purl.obolibrary.org/obo/SCDO_0000494 Health System http://purl.obolibrary.org/obo/SCDO_0000948 Quality of Health Care A system responsible for delivering services that improve, maintain or restore the health of individuals and their communities. This includes the care provided by hospitals and family doctors, but also less visible tasks such as the prevention and control of communicable disease, health promotion, health workforce planning and improving the social, economic or environmental conditions in which people live. http://purl.obolibrary.org/obo/SCDO_0000495 Health Utility http://purl.obolibrary.org/obo/SCDO_0000948 Quality of Health Care Utility measures of health related quality of life are preference values that patients attach to their overall health status. In clinical trials, utility measures summarize both positive and negative effects of an intervention into one value between 0 (equal to death) and 1 (equal to perfect health). These measures allow for comparison of patient outcomes of different diseases, and for comparison between various health care interventions. There are 2 different approaches to utility measurement. http://purl.obolibrary.org/obo/SCDO_0000496 Healthcare Access http://purl.obolibrary.org/obo/SCDO_0000948 Quality of Health Care The ease with which an individual can obtain needed medical services. http://purl.obolibrary.org/obo/SCDO_0000497 Healthy Diet http://purl.obolibrary.org/obo/NCIT_C15900 Lifestyle Therapy Dietary patterns which have been found to be important in reducing disease risk. http://purl.obolibrary.org/obo/SCDO_0000498 Healthy Lifestyle http://purl.obolibrary.org/obo/SCDO_0000689 Lifestyle A pattern of behavior involving lifestyle choices which ensure optimum health. Examples are eating right; maintaining physical, emotional, and spiritual wellness, and taking preemptive steps against communicable diseases. http://purl.obolibrary.org/obo/SCDO_0000500 Heart Function Test http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay Examinations used to diagnose and treat heart conditions. http://purl.obolibrary.org/obo/SCDO_0000501 Heart Rate http://purl.obolibrary.org/obo/SCDO_1000317 Heart Measurement The number of times the heart ventricles contract per unit of time, usually per minute. http://purl.obolibrary.org/obo/SCDO_0000502 Heart Valve Measurement http://purl.obolibrary.org/obo/SCDO_1000317 Heart Measurement Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart valves. http://purl.obolibrary.org/obo/SCDO_0000504 Hematology Analyzer http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device A measurement device used to perform complete blood counts, erythrocyte sedimentation rates (ESRs), or coagulation tests. http://purl.obolibrary.org/obo/SCDO_0000507 deprecated Hematopoietic System http://purl.obolibrary.org/obo/SCDO_0000511 obsolete Hemic and Immune Systems The blood-making organs and tissues, principally the bone marrow and lymph nodes. http://purl.obolibrary.org/obo/SCDO_0000508 Hematuria http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney Presence of blood in the urine. http://purl.obolibrary.org/obo/SCDO_0000510 HMOX1 http://purl.obolibrary.org/obo/SCDO_0000810 Non-Globin Gene This gene encodes the enzyme, heme oxygenase 1, an essential enzyme in heme catabolism and cellular homeostasis. http://purl.obolibrary.org/obo/SCDO_0000511 obsolete Hemic and Immune Systems http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype Organs involved in the production of BLOOD, including the cellular and the molecular components essential in providing defense against foreign organisms or substances. http://purl.obolibrary.org/obo/SCDO_0000513 Hemoglobin C http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes. http://purl.obolibrary.org/obo/SCDO_0000515 Hemoglobin H http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in alpha-thalassemia. http://purl.obolibrary.org/obo/SCDO_0000517 Hemoglobin Barts http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin An abnormal hemoglobin, composed of four gamma globin chains, causing it to have an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. http://purl.obolibrary.org/obo/SCDO_0000518 Hemoglobin Barts Hydrops Fetalis http://purl.obolibrary.org/obo/SCDO_0000042 Alpha Thalassemia The most severe form of alpha-thalassemia and is almost always lethal, and characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. It is caused by the presence of Hemoglobin Barts, a hemoglobin with four gamma chains, which has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues http://purl.obolibrary.org/obo/SCDO_0000519 Hemoglobin C Disease http://purl.obolibrary.org/obo/SCDO_0008262 Structural Hemoglobinopathy An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic. http://purl.obolibrary.org/obo/SCDO_0000520 Hemoglobin C Trait http://purl.obolibrary.org/obo/NCIT_C95534 Hemoglobin Trait The inheritance of the gene for hemoglobin C from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent. http://purl.obolibrary.org/obo/SCDO_0000522 Hemoglobin Variant Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A test to measure the presence and amount of a variant of hemoglobin in the blood. http://purl.obolibrary.org/obo/SCDO_0000524 Hemoglobin D Disease http://purl.obolibrary.org/obo/SCDO_0008262 Structural Hemoglobinopathy An autosomal recessive hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). http://purl.obolibrary.org/obo/SCDO_0000525 Hemoglobin D Trait http://purl.obolibrary.org/obo/NCIT_C95534 Hemoglobin Trait The inheritance of the gene for hemoglobin D from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent. http://purl.obolibrary.org/obo/SCDO_0000526 deprecated Hemoglobin D-Beta Thalassemia http://purl.obolibrary.org/obo/SCDO_0000272 obsolete Compound Heterozygous Hemoglobinopathy 'Hemoglobin D/xcexb2xc2xb0 thalassemia is a form of beta-thalassemia which results in a mild to moderate clinical picture. The severity of the condition depends on the degree of thalassemia and how it affects production of Hemoglobin A, however this condition is often considered fairly benign.' http://purl.obolibrary.org/obo/SCDO_0000527 Hemoglobin D-Ibadan http://purl.obolibrary.org/obo/SCDO_1000259 Unusual Hemoglobin An unusual hemoglobin that shows all the electrophoretic features of Hb D, but has no inherited disability. This hemoglobin has a beta 87 Thr > Lys mutation. http://purl.obolibrary.org/obo/SCDO_0000528 Hemoglobin D-Punjab http://purl.obolibrary.org/obo/SCDO_1000007 Hemoglobin D An abnormal hemoglobin (one of the types of hemoglobin D) in which glutamine replaces glutamic acid at codon 121 of beta globin. http://purl.obolibrary.org/obo/SCDO_0000529 deprecated Hemoglobin Disease Other than C,D,E,F,H,O-Arab,S http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype A disease caused by atypical hemoglobins molecules other than hemoglobin C,D,E, F, H, O-Arab and S. http://purl.obolibrary.org/obo/SCDO_0000530 Hemoglobin E Disease http://purl.obolibrary.org/obo/SCDO_0008262 Structural Hemoglobinopathy An autosomal recessive haemoglobinopathy characterized by an abnormal form of haemoglobin called haemoglobin E, which disrupts the oxygen-carrying ability of red blood cells. The condition can lead to mild or moderate hemolytic anemia; however, this condition often has no clinical manifestations. with a generally benign, asymptomatic presentation. http://purl.obolibrary.org/obo/SCDO_0000532 deprecated Hemoglobin E-Beta Thalassemia http://purl.obolibrary.org/obo/SCDO_0000272 obsolete Compound Heterozygous Hemoglobinopathy 'Hemoglobin E/xcexb2+ thalassemia is a form of beta-thalassemia that is often, but not always, milder than hemoglobin E/xcexb2xc2xb0 thalassemia. This condition shows a marked clinically diverse picture whereby abnormalities of xcexb2-globin chain synthesis result almost asymptomatic anemia to more severe transfusion-dependant anemia (Vichinsky, 2007).' http://purl.obolibrary.org/obo/SCDO_0000533 deprecated Hemoglobin F Profile http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms The score of fetal hemoglobin (Hb F) in the blood of an individual. http://purl.obolibrary.org/obo/SCDO_0000535 obsolete Hemoglobin Lepore Baltimore http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype A variant of Hemoglobin Lepore Syndrome. http://purl.obolibrary.org/obo/SCDO_0000536 Hemoglobin Lepore Boston Disease http://purl.obolibrary.org/obo/NCIT_C141366 Hemoglobin Lepore Syndrome A variant of Hemoglobin Lepore Syndrome. Crossover occurs between glutamine at position 87 of delta chain and histidine at position 116 of beta chain. It is associated with unusual high levels of Hb F. This is the only one of the three variants of described in association with HbS. http://purl.obolibrary.org/obo/SCDO_0000537 obsolete Hemoglobin Lepore Hollandia http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype A variant of Hemoglobin Lepore Syndrome. http://purl.obolibrary.org/obo/SCDO_0000540 deprecated Hemoglobin Lepore-Beta Thalassaemia http://purl.obolibrary.org/obo/SCDO_0000272 obsolete Compound Heterozygous Hemoglobinopathy 'A form of beta-thalassemia in which the patient is compound heterozygous for hemoglobin lepore and beta-thalassemia, which results in beta-thalassemia intermedia to beta-thalassemia major. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000541 Hemoglobin M Disease http://purl.obolibrary.org/obo/SCDO_0008262 Structural Hemoglobinopathy A type of dominant hereditary methemoglobinemia resulting from the production of hemoglobin M, which is readily oxidised to yield excess methemoglobin which leads to cyanosis. http://purl.obolibrary.org/obo/SCDO_0000544 Hemoglobin O-Arab Disease http://purl.obolibrary.org/obo/SCDO_0008262 Structural Hemoglobinopathy A very rare autosomal recessive hemoglobinopathy characterized by an abnormal form of hemoglobin called hemoglobin O-Arab. It is associated with a mild to moderate anemia. http://purl.obolibrary.org/obo/SCDO_0000545 Hemoglobin O-Arab Trait http://purl.obolibrary.org/obo/NCIT_C95534 Hemoglobin Trait The inheritance of hemoglobin O-Arab from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent. http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile http://purl.obolibrary.org/obo/CMO_0000508 Hemoglobin Measurement The type and relative amounts of various normal and abnormal hemoglobin types. http://purl.obolibrary.org/obo/SCDO_0000547 Hemoglobin Profile Assay http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A bioassay that measures and identifies the different types of hemoglobin in the bloodstream. It can be used to identify and characterize the different variants in structure and synthesis of hemoglobin that cause sickle cell disease. http://purl.obolibrary.org/obo/SCDO_0000548 Hemoglobin S Test http://purl.obolibrary.org/obo/SCDO_0000522 Hemoglobin Variant Test A test to quantify the presence of hemoglobin S in the blood and therefore determine whether a person has sickle cell trait or sickle cell disease. http://purl.obolibrary.org/obo/SCDO_0000551 Thalassemia Trait http://purl.obolibrary.org/obo/NCIT_C95534 Hemoglobin Trait The inheritance of one of the faulty genes that causes thalassemia. http://purl.obolibrary.org/obo/SCDO_0000552 Hemoglobinopathy http://purl.obolibrary.org/obo/SCDO_0001000 SCDO An inherited disorder of the structure and/or synthesis of hemoglobin, with a variable phenotype expression ranging from benign to severe. http://purl.obolibrary.org/obo/SCDO_0000553 obsolete Hemoglobinopathy Toms River http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype Hemoglobinopathy Toms River, is also known as transient neonatal cyanosis and anemia due to toms river hemoglobin. An important gene associated with Hemoglobinopathy Toms River is HBG2 (Hemoglobin Subunit Gamma 2. http://purl.obolibrary.org/obo/SCDO_0000556 Hepatic Span http://purl.obolibrary.org/obo/CMO_0000021 Body Morphological Measurement The distance between the lower border of the liver in the mid-clavicular line, and the upper border of the liver in the mid-clavicular line. http://purl.obolibrary.org/obo/SCDO_0000557 obsolete Hepatitis B Test http://purl.obolibrary.org/obo/SCDO_1000034 from diagnostics A test for Hepatitis B Virus. http://purl.obolibrary.org/obo/SCDO_0000558 obsolete Hepatitis C Test http://purl.obolibrary.org/obo/SCDO_1000034 from diagnostics A test for Hepatitis C Virus. http://purl.obolibrary.org/obo/SCDO_0000559 Hereditary Methemoglobinemia http://purl.obolibrary.org/obo/SCDO_0000753 Methemoglobinemia A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). http://purl.obolibrary.org/obo/SCDO_0000564 Hip Replacement Arthroplasty http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics Replacement of the hip joint. http://purl.obolibrary.org/obo/SCDO_0000565 Historically Controlled Study http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies A study that compares a group of participants receiving an intervention with a similar group from the past who did not. http://purl.obolibrary.org/obo/SCDO_0000566 History of Head Trauma Diagnostic Instrument http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to determine whether an individual has had a traumatic brain injury (TBI). http://purl.obolibrary.org/obo/SCDO_0000567 History of Kidney Failure Diagnostic Instrument http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to determine if the respondent has a history of kidney failure. http://purl.obolibrary.org/obo/SCDO_0000568 History of Stroke - Ischemic Infarction and Hemorrhage - Diagnostic Instrument http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to determine if the respondent has had an ischemic infarction (i.e. stroke) and/or any symptoms related to this event. http://purl.obolibrary.org/obo/SCDO_0000570 History of Type I and Type 2 Diabetes Diagnostic Instrument http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to determine a respondent's history of type 1 or type 2 diabetes. http://purl.obolibrary.org/obo/SCDO_0000571 HIV Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A bioassay to measure human immunodeficiency virus (HIV) antibodies and/or HIV antigens in order to determine whether an individual has an HIV infection. http://purl.obolibrary.org/obo/SCDO_0000572 Hospital Anxiety and Depression Scale (HADS) http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument The HADS consists of 2 subscales each with 7 items for measuring anxiety, and 7 items for depression rated from 0 - 3. Anxiety and depression scores are obtained by adding up the ratings of the items on each subscale. A score above 8 in any of the subscales indicates that the patient has experienced clinically significant anxiety or depression over the past week. http://purl.obolibrary.org/obo/SCDO_0000573 Hospitalization http://purl.obolibrary.org/obo/SCDO_0000493 Health Service Utilization The confinement of a patient in a hospital. http://purl.obolibrary.org/obo/SCDO_0000574 Household Roster-Relationships http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor A record of those living in the respondent's household and about his or her relationship with them. http://purl.obolibrary.org/obo/SCDO_0000576 Hydration Therapy http://purl.obolibrary.org/obo/NCIT_C15900 Lifestyle Therapy A unique treatment that administers electrolyte-packed IV fluids directly into a patient's bloodstream. Depending on the patient's needs, the fluid may be enhanced with additives such as calcium, magnesium sulfate or a Vitamin B complex. It is a far more efficient method of absorption when compared to the traditional method of drinking liquids/electrolytes. http://purl.obolibrary.org/obo/SCDO_0000580 Hydroxyurea http://purl.obolibrary.org/obo/CHEBI_23888 Drug An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase. http://purl.obolibrary.org/obo/SCDO_0000581 Hydroxyurea-Induced Adverse Event http://purl.obolibrary.org/obo/SCDO_0000191 Causal Adverse Drug Event A causal adverse drug event that is induced by hydroxyurea. http://purl.obolibrary.org/obo/SCDO_0000582 Hydroxyurea-Induced Cutaneous Adverse Event http://purl.obolibrary.org/obo/SCDO_0000581 Hydroxyurea-Induced Adverse Event A hydroxyurea-induced adverse event that has an outcome relating to or affecting the skin. http://purl.obolibrary.org/obo/SCDO_0000583 Hydroxyurea-Induced Splenomegaly Adverse Event http://purl.obolibrary.org/obo/SCDO_0000581 Hydroxyurea-Induced Adverse Event A hydroxyurea-induced adverse event that has the outcome of splenomegaly. http://purl.obolibrary.org/obo/SCDO_0000588 Hyperkalemia http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed). http://purl.obolibrary.org/obo/SCDO_0000593 Hyperpigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormality of Skin Morphology Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance. http://purl.obolibrary.org/obo/SCDO_0000607 ICD-10-CM Diagnosis Codes http://purl.obolibrary.org/obo/SCDO_0000245 Clinical Coding The ICD-10-CM diagnosis classification system developed by the Centers for Disease Control and Prevention for use in all U.S. health care treatment settings. Diagnosis coding under this system uses a different number of digits and some other changes, but the format is very much the same as ICD-9-CM. The National Center for Health Statistics (NCHS), the Federal agency responsible for use of the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10) in the United States, has developed a clinical modification of the classification for morbidity purposes. The ICD-10 is used to code and classify mortality data from death certificates, having replaced ICD-9 for this purpose as of January 1, 1999. ICD-10-CM is the replacement for ICD-9-CM, volumes 1 and 2, effective October 1, 2015. http://purl.obolibrary.org/obo/SCDO_0000611 Illness Perception Questionnaire Revised (IPQ-R) http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure The IPQ-R is an 84-item self-completed instrument developed to provide a quantitative measurement of the components of illness representations, as described by Leventhal's Common-Sense Model (CSM) of selfregulation it is divided into 3 sections: identity subscale (14 symptoms), causal subscale (18 causes), and a third section which contains 7 subscales, including consequences, timeline acute/chronic and cyclical, personal and treatment control/cure, illness coherence, and emotional representations. The questionnaire wording can be adapted to the specific illness by replacing the word illness with the name of the condition. For the identity subscale, respondents are asked if they have experienced a number of symptoms since their illness, and if they feel the symptoms are related to their current illness. Response is by circling 'yes' or 'no' to each question. Responses are then summed to give an overall score. For the causal subscale, respondents are asked what they perceive to be the cause of their illness and are asked to respond to each of the listed causes using a 5-point Likert style scale, ranging from strongly disagree to strongly agree. Respondents are also asked to rank the 3 most important factors believed to be the cause of their illness. The third section (7 subscales) is scored by summing responses to each item is on a 5-point Likert style scale, ranging from strongly disagree to strongly agree. All items for each of the subscales are summed to give an overall score. High scores on the identity, consequences, timeline acute/chronic and cyclical subscales represent strongly held beliefs about the number of symptoms attributed, the negative consequences, and the chronicity and cyclical nature of the illness. High scores on the personal and treatment control and coherence subscales represent positive beliefs about controllability and a personal understanding of the illness. http://purl.obolibrary.org/obo/SCDO_0000615 deprecated Immune System http://purl.obolibrary.org/obo/SCDO_0000511 obsolete Hemic and Immune Systems The body's defense mechanism against foreign organisms or substances and deviant native cells. It includes the humoral immune response and the cell-mediated response and consists of a complex of interrelated cellular, molecular, and genetic components. http://purl.obolibrary.org/obo/SCDO_0000618 Immunosuppressant Drug Level Decreased AE http://purl.obolibrary.org/obo/SCDO_0000028 Adverse Drug Event A drug adverse event that has an outcome of decreased levels of immunosuppressant drugs in the patient's body. http://purl.obolibrary.org/obo/SCDO_0000619 Immunoturbidimetry Assay http://purl.obolibrary.org/obo/NCIT_C16723 Immunological Assay An assay that employs immunoturbidimetry, a method that measures the absorbance of light from a sample which is used for quantifying an amount of analyte based on the level of turbidity produced by the formation and precipitation of an immune complex containing the analyte. http://purl.obolibrary.org/obo/SCDO_0000643 Insect Repellents http://purl.obolibrary.org/obo/SCDO_0000709 Malaria Prophylaxis Substances causing insects to turn away from them or reject them as food. http://purl.obolibrary.org/obo/SCDO_0000649 Intelligence Scale - Birth to 3.5 years http://purl.obolibrary.org/obo/NCIT_C122920 Intelligence Scale A standardized tool designed to assess a child's development as compared to same-age peers. It has components that involve both direct observation and interaction with a child as well as caregiver questionnaires. It consists of five domains (cognitive, motor, language, social-emotional, and adaptive behavior). http://purl.obolibrary.org/obo/SCDO_0000650 Intentional Drug Misuse AE http://purl.obolibrary.org/obo/SCDO_0000028 Adverse Drug Event An adverse drug event that results in the intentional use of a drug in the wrong way (recreationally etc). http://purl.obolibrary.org/obo/SCDO_0000651 Interrupted Time Series Analysis http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies A study that uses observations at multiple time points before and after an intervention (the interruption), in an attempt to detect whether the intervention has had an effect significantly greater than any underlying trend over time. http://purl.obolibrary.org/obo/SCDO_0000653 deprecated-Intracerebral Haemorrhage http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype Intracerebral hemorrhage (ICH) is when blood suddenly bursts into brain tissue, causing damage to the brain. http://purl.obolibrary.org/obo/SCDO_0000656 Intracranial Hypotension http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology CSF pressure less than 6 cm of H2O in patients with clinical presentation compatible with intracranial hypotension, which are postural headache, nausea, vomiting, neck pain, visual and hearing disturbances, and vertigo. It most commonly results from CSF leaks somewhere along the neuraxis. http://purl.obolibrary.org/obo/SCDO_0000657 Intraosseous Pressure http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement The hydrostatic pressure of venous blood in the marrow of bones. http://purl.obolibrary.org/obo/SCDO_0000665 Ischemia http://purl.obolibrary.org/obo/HP_0001626 Abnormality of Cardiovascular System A hypoperfusion of the blood through an organ or tissue caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation. http://purl.obolibrary.org/obo/SCDO_0000666 Isoelectric Focusing http://purl.obolibrary.org/obo/SCDO_0000424 Electrophoresis Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point. http://purl.obolibrary.org/obo/SCDO_0000676 Kidney Function Test http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine. http://purl.obolibrary.org/obo/SCDO_0000678 Knowledge about Sickle Cell Disease http://purl.obolibrary.org/obo/SCDO_0000246 Clinical Competence Collections of facts, assumptions, beliefs and practices that health professionals hold about the aetiology, pathophysiology, quality management of SCD and related social support systems based on global standards. http://purl.obolibrary.org/obo/SCDO_0000682 Lactate Dehydrogenase Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The level of lactate dehydrogenase, an enzyme released during tissue damage and injury, found in a specified biological specimen. http://purl.obolibrary.org/obo/SCDO_0000683 Lactate Dehydrogenase Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A bioassay to measure levels of lactate dehydrogenase, an enzyme released during tissue damage and injury. http://purl.obolibrary.org/obo/SCDO_0000689 Lifestyle http://purl.obolibrary.org/obo/SCDO_0000487 Health Behaviour Typical way of life or manner of living characteristic of an individual or group. (From APA, Thesaurus of Psychological Index Terms, 8th ed). http://purl.obolibrary.org/obo/SCDO_0000691 Light Coagulation http://purl.obolibrary.org/obo/SCDO_0000833 Ophthalmologic Surgical Procedure The coagulation of tissue by an intense beam of light, including laser (laser coagulation). In the eye it is used in the treatment of retinal detachments, retinal holes, aneurysms, hemorrhages, and malignant and benign neoplasms. (Dictionary of Visual Science, 3d ed) http://purl.obolibrary.org/obo/SCDO_0000694 Liver Examination http://purl.obolibrary.org/obo/SCDO_0000898 Physical Examination Any process carried out to determine the condition of a patient's liver. http://purl.obolibrary.org/obo/SCDO_0000698 Locus of Control http://purl.obolibrary.org/obo/SCDO_0000488 Health Beliefs Personality construct referring to an individual's perception of the locus of events as determined internally by his or her own behaviour versus fate, luck, or external forces. http://purl.obolibrary.org/obo/SCDO_0000699 Longitudinal Studies http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Studies in which variables relating to an individual or group of individuals are assessed over a period of time. http://purl.obolibrary.org/obo/SCDO_0000702 Lot Quality Assurance Sampling http://purl.obolibrary.org/obo/SCDO_0300004 Epidemiologic Study Characteristics A sampling methodology using small sample sizes when conducting surveys in small geographical or population-based areas or lots. http://purl.obolibrary.org/obo/SCDO_0000704 Lung Volume Measurement http://purl.obolibrary.org/obo/CMO_0000094 Respiratory System Measurement Measurement of the amount of air that the lungs may contain at various points in the respiratory cycle. http://purl.obolibrary.org/obo/SCDO_0000705 Lung Volume Test http://purl.obolibrary.org/obo/SCDO_0000942 Pulmonary Function Test Clinical assessment to determine the volume of gas within an individual's lung. http://purl.obolibrary.org/obo/SCDO_0000709 Malaria Prophylaxis http://purl.obolibrary.org/obo/SCDO_0000930 Infection Prophylaxis The use of drugs or other agents to prevent malarial infection. Examples: Proguanil, mefloquine, artesunate, insect repellant, insecticide-treated-bednet. http://purl.obolibrary.org/obo/SCDO_0000710 Manometer http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device An instrument that is used for measuring the pressure of liquids and gases. http://purl.obolibrary.org/obo/SCDO_0000711 Marital Status of Primary Caregiver http://purl.obolibrary.org/obo/SCDO_1000157 Quality of Life Related Personal Attribute The current marital status of the respondent's caregiver (i.e. family member or another individual who takes primary responsibility for the respondent). http://purl.obolibrary.org/obo/SCDO_0000725 Measure of Frequency of Sickle Cell Pain Episodes http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to capture the frequency of acute pain episodes within a defined time frame due to sickle cell disease (SCD). It includes three self-administered questions from the Cooperative Study of Sickle Cell Disease (CSSCD) that capture number of painful episodes that required visits to the emergency room or hospital or interfered with daily activities. http://purl.obolibrary.org/obo/SCDO_0000726 Measure of Sickle Cell Stigma (MoSCS) http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure Measure of disease specific stigma based on patient reported outcome measurements that assesses 4 MoSCS factors: Social exclusion, Internalized Stigma, Expected Discrimination and Disclosure concerns. Measure includes stigma scores; perceived disease severity, acute care service utilization, hospital admission levels. N=262. http://purl.obolibrary.org/obo/SCDO_0000727 Measured Weight http://purl.obolibrary.org/obo/SCDO_0000152 Body Weight The weight of the participant in kilograms. http://purl.obolibrary.org/obo/SCDO_0000737 Medical Outcomes Study (MOS) Social Support Survey http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure The MOS Social Support Survey is a self-administered questionnaire that includes 19 items across four functional support subscales: emotional/informational support (8 items), tangible/instrumental support (4 items), affectionate support (3 items), and positive social interaction (3 items). Each item is scored on a 5-point Likert style scale (1 = None of the Time; 5 = All of the Time) to indicate how often that type of support is available to them. A score for each social support subscale can be computed by averaging across the individual items or by adding scores individual items together. Higher scores indicate more support. http://purl.obolibrary.org/obo/SCDO_0000738 Medical Records http://purl.obolibrary.org/obo/SCDO_0000948 Quality of Health Care Recording of pertinent information concerning patient's illness or illnesses. http://purl.obolibrary.org/obo/SCDO_0000739 Medication Adherence http://purl.obolibrary.org/obo/SCDO_0000869 Patient Compliance Voluntary cooperation of the patient in taking drugs or medicine as prescribed. This includes timing, dosage, and frequency. http://purl.obolibrary.org/obo/SCDO_0000740 Medication Inventory http://purl.obolibrary.org/obo/SCDO_1000157 Quality of Life Related Personal Attribute A record of the type and dosage of all prescription and over-the-counter medications as well as dietary supplements currently being taken by the individual. http://purl.obolibrary.org/obo/SCDO_0000741 Meditation http://purl.obolibrary.org/obo/SCDO_0001284 Behaviour Therapy A state of consciousness in which the individual eliminates environmental stimuli from awareness so that the mind can focus on a single thing, producing a state of relaxation and relief from stress. A wide variety of techniques are used to clear the mind of stressful outside interferences. It includes meditation therapy. (Mosby's Medical, Nursing, and Allied Health Dictionary, 4th ed) http://purl.obolibrary.org/obo/SCDO_0000743 Membranous Nephropathy http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the Immune System A type of glomerulonephropathy characterized by histology with thickening of the basement membrane and deposition of immune complexes in the subepithelial space. http://purl.obolibrary.org/obo/SCDO_0000746 Mental Health http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life Emotional, psychological, and social well-being of an individual or group. http://purl.obolibrary.org/obo/SCDO_0000747 Meta-Analysis http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Works consisting of studies using a quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc. It is often an overview of clinical trials. It is usually called a meta-analysis by the author or sponsoring body and should be differentiated from reviews of literature. http://purl.obolibrary.org/obo/SCDO_0000748 Metabolic State http://purl.obolibrary.org/obo/SCDO_0000122 Biological Disease Modifier The state of the chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (anabolism) and the breakdown (catabolism) of organic materials utilized by the living organism. http://purl.obolibrary.org/obo/SCDO_0000753 Methemoglobinemia http://purl.obolibrary.org/obo/OGMS_0000047 Genetic Disorder The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed) http://purl.obolibrary.org/obo/SCDO_0000754 deprecated Diagnostic Method http://purl.obolibrary.org/obo/SCDO_1000034 from diagnostics 'Any procedure or test to diagnose a disease or disorder. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000760 Migraine Questionnaire http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to assess migraines and headaches. http://purl.obolibrary.org/obo/SCDO_0000762 Mobile Radiographic Unit http://purl.obolibrary.org/obo/OBI_0001138 X-Ray Machine Transportable radiographic equipment allowing imaging services to be brought to the patient. http://purl.obolibrary.org/obo/SCDO_0000763 Mobility Limitation http://purl.obolibrary.org/obo/SCDO_0000900 Physical Functioning Difficulty moving from place to place or from one position to another without assistance. http://purl.obolibrary.org/obo/SCDO_0000771 Morphine http://purl.obolibrary.org/obo/CHEBI_35482 Opioid The principal alkaloid in opium and the prototype opiate analgesic and narcotic. Morphine has widespread effects in the central nervous system and on smooth muscle. http://purl.obolibrary.org/obo/SCDO_0000774 obsolete Multicenter Study http://purl.obolibrary.org/obo/SCDO_0000941 obsolete Publication Type 'A work that reports on a study executed by several cooperating institutions. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000775 Multicenter Studies as Topic http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics Works about controlled studies which are planned and carried out by several cooperating institutions to assess certain variables and outcomes in specific patient populations, for example, a multicenter study of congenital anomalies in children. http://purl.obolibrary.org/obo/SCDO_0000776 Multidimensional Health Locus of Control Scales (MHLC) http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure The multidimensional health locus of control (MHLC) scale is a widely used measure of the factors that people believe exert some measures of control over their health. The MHLC originally developed by Wallston and colleagues contained 3 subscales describing various types of control-related cognitions an individual may have about the current state of his or her health. These were: Internal Health Locus of Control (IHLC), Powerful Others Health Locus of Control (PHLC) and Chance Health Locus of Control (CHLC). Subsequently, a fourth subscale, the God Locus of Health Control (G LHC) scale was developed to assess the extent of an individual's belief that God controls his or her health status was added to the measure. Thus, the expanded MHLC Consists of 4 sub-scales: one Internal and 3 external subscales namely, powerful others, chance and God. Each of the 4 sub-scales has 6 items making a total of 24 items. The two original versions of the MHLC (forms A & B) deal with the general health status whereas the third version (Form C) assesses control-related cognitions about a specific disease state. http://purl.obolibrary.org/obo/SCDO_0000777 Muscle Atrophy http://purl.obolibrary.org/obo/SCDO_1000268 Abnormality of the Musculature The presence of skeletal muscular atrophy, reduction in the muscle bulk. http://purl.obolibrary.org/obo/SCDO_0000781 Mutation Carrier Screening http://purl.obolibrary.org/obo/NCIT_C92803 Genetic Screening The process of identifying carriers/heterozygotes of a genetic mutation that can result in a severe recessive condition. Carrier screening is done using various laboratory techniques. http://purl.obolibrary.org/obo/SCDO_0000782 MYB http://purl.obolibrary.org/obo/SCDO_0000810 Non-Globin Gene This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. http://purl.obolibrary.org/obo/SCDO_0000787 N-terminal Pro-brain Natriuretic Peptide Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A bioassay to determine an individual's level of N-terminal pro-brain natriuretic peptide (NT-proBNP). http://purl.obolibrary.org/obo/SCDO_0000789 Naloxone http://purl.obolibrary.org/obo/CHEBI_35482 Opioid A specific opiate antagonist that has no agonist activity. It is a competitive antagonist at mu, delta, and kappa opioid receptors. http://purl.obolibrary.org/obo/SCDO_0000791 Nasal Decongestants http://purl.obolibrary.org/obo/CHEBI_23888 Drug Drugs designed to treat inflammation of the nasal passages, generally the result of an infection (more often than not the common cold) or an allergy related condition, e.g., hay fever. The inflammation involves swelling of the mucous membrane that lines the nasal passages and results in inordinate mucus production. The primary class of nasal decongestants are vasoconstrictor agents. (From PharmAssist, The Family Guide to Health and Medicine, 1993) http://purl.obolibrary.org/obo/SCDO_0000794 obsolete Nephrology http://purl.obolibrary.org/obo/SCDO_0001208 deprecated Urinary System 'A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000796 Nephrotic Syndrome http://purl.obolibrary.org/obo/HP_0000112 Nephropathy Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria >3.5 g per 24 hours (in children, >40 mg/m2/hr or PCR >2000 mg/g [>200 mg/mmol] or >300 mg/dl or 3+ on urine dipstick) plus hypoalbuminemia (<3gm/dl) and edema. http://purl.obolibrary.org/obo/SCDO_0000797 Nephrotic Range Proteinuria http://purl.obolibrary.org/obo/SCDO_0000932 Proteinuria Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children, or urine protein to creatinine ratio >2000 mg/g [>200 mg/mmol] in children. http://purl.obolibrary.org/obo/SCDO_0000798 deprecated Nervous System http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior. http://purl.obolibrary.org/obo/SCDO_0000799 Neurocognitive Impairment http://purl.obolibrary.org/obo/SCDO_0000895 Phenotype of Sickle Cell Disease An invisible complication of sickle cell anemia (SSA) that defies detection by imaging and other routine diagnostic methods. Impaired neurocognitive function in seemingly neurologically intact patients is not related to vasoocclusion or hemolysis. It is detected by neuropsychiatric and neurobehavioral testing and is associated with anemia and age. http://purl.obolibrary.org/obo/SCDO_0000801 Neurological Rehabilitation http://purl.obolibrary.org/obo/SCDO_0000978 Rehabilitation Physician-supervised programs designed to rehabilitate people with diseases, trauma, or disorders of the nervous system. http://purl.obolibrary.org/obo/SCDO_0000803 Neonatal Screening for Sickle Cell http://purl.obolibrary.org/obo/SCDO_0001049 Sickle Cell Disease Screening Test Testing of neonates to identify those with major sickling diseases. http://purl.obolibrary.org/obo/SCDO_0000804 NIH Stroke Scale (NIHSS) http://purl.obolibrary.org/obo/SCDO_0001112 Stroke Impact Measure A physical assessment of the various symptoms associated with a stroke, consisting of 11 categories. For each category, the test administrator asks the respondent to perform an activity or respond to stimuli. Respondents receive a score for each category based upon their ability to complete the activity or respond to the action. Each score typically ranges from 0 to 3. Each category of the NIHSS is designed to determine the respondent's level of consciousness (LOC), visual, motor, or language ability. http://purl.obolibrary.org/obo/SCDO_0000807 No-Show Patient http://purl.obolibrary.org/obo/SCDO_0000869 Patient Compliance Patients who do not turn up for scheduled healthcare appointments. http://purl.obolibrary.org/obo/SCDO_0000808 Nocturia http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the Urinary System Frequent urination at night that interrupts sleep. It is often associated with outflow obstruction, diabetes mellitus, or bladder inflammation (cystitis). http://purl.obolibrary.org/obo/SCDO_0000809 Non Opioid http://purl.obolibrary.org/obo/SCDO_0000050 Analgesic A subclass of analgesic agents that typically do not bind to opioid receptors and are not addictive. Many non-narcotic analgesics are offered as nonprescription drugs. http://purl.obolibrary.org/obo/SCDO_0000810 Non-Globin Gene http://purl.obolibrary.org/obo/NCIT_C16612 Gene A gene that does not encode a globin family protein. http://purl.obolibrary.org/obo/SCDO_0000811 Non-Proliferative Sickle Retinopathy http://purl.obolibrary.org/obo/SCDO_0001067 Sickle Retinopathy Sickle retinopathy caused by direct damage or remodeling of the small blood vessels supplying the retina secondary to vaso-occlusion and local ischemia. http://purl.obolibrary.org/obo/SCDO_0000812 Non-specific Acute Lower Respiratory Tract Episode http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System Includes acute respiratory episodes with lower respiratory tract signs that do not meet the criteria for other diagnoses. May include episodes which would have been diagnosed as ACS were radiographic facilities available. http://purl.obolibrary.org/obo/SCDO_0000818 obsolete Observational Study http://purl.obolibrary.org/obo/SCDO_0000252 obsolete Clinical Study 'A work that reports on the results of a clinical study in which participants may receive diagnostic, therapeutic, or other types of interventions, but the investigator does not assign participants to specific interventions (as in an interventional study). [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000819 Observational Studies as Topic http://purl.obolibrary.org/obo/SCDO_0000253 Clinical Studies as Topic Works about clinical studies in which participants may receive diagnostic, therapeutic, or other types of interventions, but the investigator does not assign participants to specific interventions (as in an interventional study). http://purl.obolibrary.org/obo/SCDO_0000822 Occupational Therapy http://purl.obolibrary.org/obo/SCDO_0000978 Rehabilitation Skilled treatment that helps individuals achieve independence in all facets of their lives. It assists in the development of skills needed for independent living. http://purl.obolibrary.org/obo/SCDO_0000828 Oliguria http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney Low output of urine, defined as an output below 5mL/kg/hr over 6 hours. http://purl.obolibrary.org/obo/SCDO_0000833 Ophthalmologic Surgical Procedure http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics Surgery performed on the eye or any of its parts. http://purl.obolibrary.org/obo/SCDO_0000834 Ophthalmoscope http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device Device for examining the interior of the eye, permitting the clear visualization of the structures of the eye at any depth. http://purl.obolibrary.org/obo/SCDO_0000835 Ophthalmoscopy http://purl.obolibrary.org/obo/NCIT_C38060 Eye Examination Examination of the interior of the eye with an ophthalmoscope. http://purl.obolibrary.org/obo/SCDO_0000839 Osteomalacia http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System A general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. http://purl.obolibrary.org/obo/SCDO_0000840 Osteomyelitis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System An inflammatory process accompanied by bone destruction and caused by an infecting microorganism. http://purl.obolibrary.org/obo/SCDO_0000851 Pain http://purl.obolibrary.org/obo/HP_0025142 Constitutional Symptom An unpleasant sensory and emotional experience triggered in the nervous system, associated with actual or potential tissue damage, or described in terms of such damage. http://purl.obolibrary.org/obo/SCDO_0000852 Pain Status http://purl.obolibrary.org/obo/SCDO_0000900 Physical Functioning The impact of sickle cell pain on the daily activities of patients. The degree to which pain interferes with their quality of life. This pain is related to the unique features of Sickle Cell Disease. http://purl.obolibrary.org/obo/SCDO_0000864 Palpation of Liver http://purl.obolibrary.org/obo/SCDO_0000694 Liver Examination A method of determining the shape and consistency of the liver by feeling with the fingers or hands. http://purl.obolibrary.org/obo/SCDO_0000866 Parasite http://purl.obolibrary.org/obo/OBI_0000925 Infectious Agent Invertebrate organisms that live on or in another organism (the host), and benefit at the expense of the other. Traditionally excluded from definition of parasites are pathogenic bacteria; fungi; viruses; and plants; though they may live parasitically. http://purl.obolibrary.org/obo/SCDO_0000869 Patient Compliance http://purl.obolibrary.org/obo/SCDO_0000746 Mental Health Voluntary cooperation of the patient in following a prescribed regimen. http://purl.obolibrary.org/obo/SCDO_0000873 Pediatric Migraine Disability Assessment http://purl.obolibrary.org/obo/SCDO_0000760 Migraine Questionnaire A headache disability questionnaire which is completed by the patient and his/her parent and is reviewed with the clinician or study staff. It captures the impact of headaches on school performance (three questions), activities at home (one question on homework or chores), and social and/or sports functions (two questions). It is scored by summing the answers across the six questions. If a range is provided as an answer, either use the high end of the range or prompt for a single answer. The frequency and severity are not scored but can be used for clinical reference. http://purl.obolibrary.org/obo/SCDO_0000874 Pediatric NIH Stroke Scale (PedNIHSS) http://purl.obolibrary.org/obo/SCDO_0001112 Stroke Impact Measure A physical assessment of the various symptoms associated with a stroke, consisting of eleven categories. The PedNIHSS was developed by a panel of pediatric and adult stroke experts and is a modification of the adult NIH stroke scale (NIHSS). Modifications were made to allow individuals age 18 or younger to be assessed and are identified in the PedNIHSS by bold italic text. http://purl.obolibrary.org/obo/SCDO_0000876 Pediatric School Performance Measure http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument A questionnaire to assess educational performance and learning accommodations. http://purl.obolibrary.org/obo/SCDO_0000877 PedsQL Multidimensional Fatigue Scale http://purl.obolibrary.org/obo/NCIT_C78652 Pediatric Quality of Life Inventory (PedsQL) A generic symptom-specific instrument to measure fatigue across pediatric populations. http://purl.obolibrary.org/obo/SCDO_0000881 Penicillin Prophylaxis http://purl.obolibrary.org/obo/NCIT_C51993 Antibiotic Prophylaxis Use of penicillin for the prevention of infections with penicillin-susceptible organisms, e.g. Streptococcus pneumoniae. http://purl.obolibrary.org/obo/SCDO_0000882 Percussion of Liver http://purl.obolibrary.org/obo/SCDO_0000694 Liver Examination A method of determining the size of the liver by tapping on the surface of the abdomen. http://purl.obolibrary.org/obo/SCDO_0000885 Peripheral Oxygen Saturation http://purl.obolibrary.org/obo/CMO_0001324 Oxygen Saturation An estimation of the oxygen saturation level usually measured with a pulse oximeter device. http://purl.obolibrary.org/obo/SCDO_0000895 Phenotype of Sickle Cell Disease http://purl.obolibrary.org/obo/OGMS_0000028 Disease Phenotype A (combination of) quality(ies) of some or all sickle cell disease individuals, determined by the interaction of the genetic make-up of these individuals (with regard to sickle cell disease) and their environment. http://purl.obolibrary.org/obo/SCDO_0000896 Physical Detection Method http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay The physical method (technology) used to measure / readout the effect caused by a perturbagen in the assay environment. http://purl.obolibrary.org/obo/SCDO_0000897 Physical Environment http://purl.obolibrary.org/obo/SCDO_0000435 Environmental Disease Modifier The part of the human environment that consists of purely physical factors, including the natural environment (such as soil, climate, water supply) and the built environment. http://purl.obolibrary.org/obo/SCDO_0000898 Physical Examination http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay Systematic and thorough inspection of the patient for physical signs of disease or abnormality. http://purl.obolibrary.org/obo/SCDO_0000900 Physical Functioning http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life One's ability to carry out activities that require physical actions, ranging from self-care (activities of daily living) to more complex activities that require a combination of skills, often within a social context. Physical function is inclusive of the term disability and includes the full spectrum of physical functioning from severe impairment to exceptional physical abilities. http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay An organismal assay designed to capture information pertaining to the organic processes and phenomena of an organism or any of its parts or of a particular bodily process. http://purl.obolibrary.org/obo/SCDO_0000903 Physiotherapy http://purl.obolibrary.org/obo/SCDO_0000978 Rehabilitation A therapeutic intervention that remediates impairments and promotes mobility, function, and quality of life through examination, diagnosis, and physical intervention. http://purl.obolibrary.org/obo/SCDO_0000905 Pilot Projects http://purl.obolibrary.org/obo/SCDO_0300004 Epidemiologic Study Characteristics Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work. http://purl.obolibrary.org/obo/SCDO_0000908 Pneumatic Retinopexy http://purl.obolibrary.org/obo/SCDO_0000833 Ophthalmologic Surgical Procedure A nonincisional procedure that has become a well-accepted alternative to scleral buckling and vitrectomy for the repair of selected cases of rhegmatogenous retinal detachment. http://purl.obolibrary.org/obo/SCDO_0000913 Polymerase Chain Reaction http://purl.obolibrary.org/obo/SCDO_0000448 Genetic Technique The process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As the process progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified. http://purl.obolibrary.org/obo/SCDO_0000917 Pragmatic Clinical Trial http://purl.obolibrary.org/obo/SCDO_0000965 obsolete Randomized Controlled Trial 'Works about randomized clinical trials that compare interventions in clinical settings and which look at a range of effectiveness outcomes and impacts. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000919 Prenatal Screening for Sickle Cell http://purl.obolibrary.org/obo/SCDO_0001049 Sickle Cell Disease Screening Test Prenatal detection of a fetus affected with Sickle Cell Disease using appropriate laboratory techniques. Detection of affected fetuses allows couples to make informed decisions regarding the pregnancy. http://purl.obolibrary.org/obo/SCDO_0000922 Preventative Therapeutics http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics Activities to prevent Sickle Cell Disease or its complications. http://purl.obolibrary.org/obo/SCDO_0000923 Priapism http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications A prolonged painful erection that may last hours and is not associated with sexual activity. It is seen in patients with sickle cell anemia, advanced malignancy, spinal trauma, and certain drug treatments. http://purl.obolibrary.org/obo/SCDO_0000924 Primary Healthcare http://purl.obolibrary.org/obo/SCDO_0000494 Health System Care which provides integrated, accessible health care services by clinicians who are accountable for addressing a large majority of personal health care needs, developing a sustained partnership with patients, and practicing in the context of family and community. http://purl.obolibrary.org/obo/SCDO_0000925 Proguanil http://purl.obolibrary.org/obo/IDOMAL_0000122 Malaria Chemoprophylaxis A biguanide compound which metabolizes in the body to form cycloguanil, an anti-malaria agent. Cycloguanil stops the malaria parasite, Plasmodium falciparum and Plasmodium vivax, from reproducing once it is in the red blood cells. It does this by inhibiting the enzyme, dihydrofolate reductase, which is involved in the reproduction of the parasite. http://purl.obolibrary.org/obo/SCDO_0000926 Proliferative Sickle Retinopathy http://purl.obolibrary.org/obo/SCDO_0001067 Sickle Retinopathy Sickle retinopathy that involves the upregulation of vascular growth factors due to chronic changes of local hypoxia and ischemia. http://purl.obolibrary.org/obo/SCDO_0000927 PROMIS Adult Profile 29 http://purl.obolibrary.org/obo/NCIT_C102988 Patient Reported Outcomes Measurement Information System (PROMIS) This protocol includes 29 self-administered quality of life-type questions from the PROMIS Profile 29 for adults. The quality of life questions include physical function, anxiety, depression, fatigue, sleep disturbance, ability to participate in social roles and activities, and pain intensity over the past 7 days. Each question, except for the pain intensity question, is measured on a 5-point scale. http://purl.obolibrary.org/obo/SCDO_0000928 PROMIS Pediatric Profile 25 http://purl.obolibrary.org/obo/NCIT_C102988 Patient Reported Outcomes Measurement Information System (PROMIS) This protocol includes 25 quality of life-type questions relating to physical function mobility, anxiety, depressive symptoms, fatigue, peer relationships, pain interference, and pain intensity over the past 7 days. http://purl.obolibrary.org/obo/SCDO_0000930 Infection Prophylaxis http://purl.obolibrary.org/obo/CHEBI_23888 Drug A planned process that has the objective to reduce the risk of acquiring one or more infections. http://purl.obolibrary.org/obo/SCDO_0000931 Prospective Studies http://purl.obolibrary.org/obo/SCDO_0000263 Cohort Studies Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group. http://purl.obolibrary.org/obo/SCDO_0000932 Proteinuria http://purl.obolibrary.org/obo/HP_0003110 Abnormal Urine Homeostasis Increased amounts of any protein (including albumin) in the urine - typically more than 300mg in a 24hr period. http://purl.obolibrary.org/obo/SCDO_0000934 Provider Attitudes Toward Patients with Sickle Cell Disease http://purl.obolibrary.org/obo/SCDO_0000947 Quality of Care Measure This is a 17-item scale, separated into 4 subscales with good psychometric properties. Negative Attitudes Scale comprises six items grouped together (Mean=36.5, SD=21.9, Potential range = 0 to 100). Higher scores on this scale indicate an endorsement of more negative views about SCD patients. Positive Attitudes Scale comprises four items grouped together (Mean=45.7, SD=24.3, Potential range = 0 to 100). Higher scores indicate an endorsement of more positive views about SCD patients. Concern Raising Behaviors Scale comprises four items grouped together (Mean = 53.7, SD = 22.0, Potential range = 0 to 100). Higher scores indicate greater endorsement of the belief that certain SCD patient behaviors raise clinician concern that the patient is inappropriately drug-seeking. Red-Flag Behaviors Scale comprises three items grouped together (Mean = 58.7, SD = 22.7, Potential range = 0 to 100). Higher scores on this scale indicate greater endorsement of the belief that certain SCD patient behaviors raise clinician concern about patient drug-seeking. http://purl.obolibrary.org/obo/SCDO_0000935 Pruritus http://purl.obolibrary.org/obo/HP_0000961 Cyanosis Pruritus, or itch, is defined as an unpleasant sensation that provokes the desire to scratch. http://purl.obolibrary.org/obo/SCDO_0000937 Psychological Stress http://purl.obolibrary.org/obo/SCDO_0000746 Mental Health Stress wherein emotional factors predominate. http://purl.obolibrary.org/obo/SCDO_0000938 Psychosocial Deprivation http://purl.obolibrary.org/obo/SCDO_0000746 Mental Health The absence of appropriate stimuli in the physical or social environment which are necessary for the emotional, social, and intellectual development of the individual. http://purl.obolibrary.org/obo/SCDO_0000940 Psychotherapy http://purl.obolibrary.org/obo/SCDO_0001129 Supportive Therapeutics A generic term for the treatment of mental illness or emotional disturbances primarily by verbal or nonverbal communication. http://purl.obolibrary.org/obo/SCDO_0000941 obsolete Publication Type http://purl.obolibrary.org/obo/SCDO_1000023 obsolete Evidence Code 'Describes the type of material the article represents (e.g., Review, Clinical Trial, Retracted Publication, Letter); see the PubMed Publication Types, e.g., review[pt]. Publication Types are arranged hierarchically with more specific terms arranged beneath broader terms. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000942 Pulmonary Function Test http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc. http://purl.obolibrary.org/obo/SCDO_0000943 Pulmonary Hypertension http://purl.obolibrary.org/obo/HP_0000822 Hypertension An elevation of mean pulmonary arterial systolic pressure (mPASP) (>20 mmHg at rest or >30 mmHg with exercise). The 6th World Symposium on PH reduced it from >25mmHg to >20mmHg for at rest, but did not adjust the definition for PH with exercise. http://purl.obolibrary.org/obo/SCDO_0000944 Pulse Oximeter http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device A measurement device, usually attached to the earlobe or fingertip, that measures the oxygen saturation of arterial blood. http://purl.obolibrary.org/obo/SCDO_0000945 Pulse Oximetry (Rest) http://purl.obolibrary.org/obo/NCIT_C38085 Pulse Oximetry The application of pulse oximetry to measure a patient's saturation of oxyhemoglobin when the patient is at rest. http://purl.obolibrary.org/obo/SCDO_0000947 Quality of Care Measure http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure The systemic measurement of the quality of health care that includes a broad set of perfomance measures such as the quality of services and the outcomes analysis for particular diseases and conditions, mortality and morbidity, patient safety, data on maternal and child health, as well as evaluation of quality of diagnosis, care accessibility, implementation of proven evidence-based practices, quality of reporting systems for errors and adverse events, reliability and accessibility of health and health care-related information, and health care organizations infrastructure. http://purl.obolibrary.org/obo/SCDO_0000948 Quality of Health Care http://purl.obolibrary.org/obo/SCDO_0000950 Quality of Life and Care The levels of excellence which characterize the health service or health care provided based on accepted standards of quality. http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure http://purl.obolibrary.org/obo/SCDO_0000950 Quality of Life and Care A measurement tool that is useful in aiding routine clinical practice with regard to quality of life and/or quality of care. http://purl.obolibrary.org/obo/SCDO_0000952 Quality of Life in Sickle Cell Disease Measure http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument A questionnaire to assess the physical, emotional, and social impact of chronic conditions, such as sickle cell disease (SCD). http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure A measurement tool with eight potential uses in aiding routine clinical practice. It can be used to prioritise problems, facilitate communication, screen for potential problems, identify preferences, monitor changes or response to treatment, and train new staff. It can also be used in clinical audit and in clinical governance. The first five of these can be used in the clinical encounter, while the last three contribute to training, reviewing care, and improving care in the future. http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life Sickle cell symptoms where there is evidence of some relation with quality of life. http://purl.obolibrary.org/obo/SCDO_0000955 Quality-Adjusted Life Year (QALY) http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure QALYs are used primarily to correct a person's life expectancy based on the levels of health-related quality of life they are predicted to experience throughout the course of their life, or part of it. http://purl.obolibrary.org/obo/SCDO_0000957 obsolete Questionnaire http://purl.obolibrary.org/obo/SCDO_1000034 from diagnostics 'Collection of data obtained from voluntary subjects. The information usually takes the form of answers to questions, or suggestions. Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000963 Radiography http://purl.obolibrary.org/obo/OBI_0000185 Imaging Assay Examination of any part of the body for diagnostic purposes by means of x-rays or gamma rays, recording the image on a sensitized surface (such as photographic film). http://purl.obolibrary.org/obo/SCDO_0000964 Radionuclide Imaging http://purl.obolibrary.org/obo/OBI_0000185 Imaging Assay The production of an image obtained by cameras that detect the radioactive emissions of an injected radionuclide as it has distributed differentially throughout tissues in the body. The image obtained from a moving detector is called a scan, while the image obtained from a stationary camera device is called a scintiphotograph. http://purl.obolibrary.org/obo/SCDO_0000965 obsolete Randomized Controlled Trial http://purl.obolibrary.org/obo/SCDO_0000283 obsolete Controlled Clinical Trial 'A work that reports on a clinical trial that involves at least one test treatment and one control treatment, concurrent enrollment and follow-up of the test- and control-treated groups, and in which the treatments to be administered are selected by a random process, such as the use of a random-numbers table. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000970 Recovery and Recurrence Questionnaire (RRQ) http://purl.obolibrary.org/obo/SCDO_0001339 Functionality After Stroke Measure A questionnaire that assesses recovery and recurrence of stroke in children. It is completed by a parent about their child. http://purl.obolibrary.org/obo/SCDO_0000972 Recurrent Wheeze in Sickle Cell Disease http://purl.obolibrary.org/obo/SCDO_0000895 Phenotype of Sickle Cell Disease Recurrent episodes of wheezing in persons with SCD who have no co-morbid asthma. http://purl.obolibrary.org/obo/SCDO_0000975 Red Blood Cell Microparticles Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of red blood cell derived microparticles in a specific volume of blood. http://purl.obolibrary.org/obo/SCDO_0000976 Reduced Hemoglobin A http://purl.obolibrary.org/obo/HP_0020062 Decreased Hemoglobin Concentration Hemoglobin A (HbA) contains two alpha-globin chains and two beta-globin chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decrease in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. http://purl.obolibrary.org/obo/SCDO_0000978 Rehabilitation http://purl.obolibrary.org/obo/SCDO_0001129 Supportive Therapeutics Restoration of human functions to the maximum degree possible in a person or persons suffering from disease or injury. http://purl.obolibrary.org/obo/SCDO_0000979 Reincarnation http://purl.obolibrary.org/obo/SCDO_0000107 Beliefs About Causes of Illness Reincarnation is the philosophical or religious concept that an aspect of a living being starts a new life in a different physical body or form after each biological death. http://purl.obolibrary.org/obo/SCDO_0000981 Religion http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A set of beliefs concerning the nature, cause, and purpose of the universe, especially when considered as the creation of a superhuman agency. It usually involves devotional and ritual observances and often a moral code for the conduct of human affairs. http://purl.obolibrary.org/obo/SCDO_0000983 Renal Dialysis http://purl.obolibrary.org/obo/SCDO_1000004 Renal Replacement Therapy Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, peritoneal dialysis, and hemodiafiltration. http://purl.obolibrary.org/obo/SCDO_0000984 Renal Ischemia http://purl.obolibrary.org/obo/SCDO_1000383 Renal Complication Inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of blood vessels. http://purl.obolibrary.org/obo/SCDO_0000985 Renal Transplant http://purl.obolibrary.org/obo/SCDO_1000004 Renal Replacement Therapy The transference of a kidney from one human or animal to another. http://purl.obolibrary.org/obo/SCDO_0000986 Renal Tubular Acidosis http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia. http://purl.obolibrary.org/obo/SCDO_0000987 Reproductive History Diagnostic Instrument http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to assess either male or females' pregnancy history. Females are asked about the number of pregnancies, description of pregnancies and smoking during pregnancy. Males are asked whether they have ever fathered a pregnancy and, if so, the description of the pregnancy. http://purl.obolibrary.org/obo/SCDO_0000988 deprecated Reproductive System http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'Anatomical system that has as its parts the organs concerned with reproduction. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000990 obsolete Research Activity http://purl.obolibrary.org/obo/SCDO_1000031 from personal attribute 'Systematic investigation into a subject in order to discover facts, establish or revise a theory, or develop a plan of action based on the facts discovered. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000993 Respiratory Rate http://purl.obolibrary.org/obo/CMO_0000094 Respiratory System Measurement The number of times an organism breathes with the lungs (respiration) per unit time, usually per minute. http://purl.obolibrary.org/obo/SCDO_0000994 deprecated Respiratory System http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype Lungs and respiratory system of the body. http://purl.obolibrary.org/obo/SCDO_0001002 Restriction Fragment Length Polymorphism PCR http://purl.obolibrary.org/obo/SCDO_0000913 Polymerase Chain Reaction PCR-restriction fragment length polymorphism (RFLP)-based analysis, also known as cleaved amplified polymorphic sequence (CAPS), is a popular technique for genetic analysis. It has been applied for the detection of intraspecies as well as interspecies variation. There exist several techniques that are related with PCR-RFLP and also involve gel electrophoresis including techniques for DNA fingerprinting and expression profiling. http://purl.obolibrary.org/obo/SCDO_0001004 Reticulocyte Count http://purl.obolibrary.org/obo/CMO_0000025 Red Blood Cell Count The number of reticulocytes per unit volume of blood. The values are expressed as a percentage of the erythrocyte count or in the form of an index ("corrected reticulocyte index"), which attempts to account for the number of circulating erythrocytes. http://purl.obolibrary.org/obo/SCDO_0001005 Reticulocyte Count by Hematology Analyzer http://purl.obolibrary.org/obo/SCDO_0001004 Reticulocyte Count A reticulocyte count that was performed with an electronic haematology analyzer. http://purl.obolibrary.org/obo/SCDO_0001006 Reticulocyte Count by Microsocopy http://purl.obolibrary.org/obo/SCDO_0001004 Reticulocyte Count A reticulocyte count that was performed with microscopy. http://purl.obolibrary.org/obo/SCDO_0001007 Retinal Cryopexy http://purl.obolibrary.org/obo/SCDO_0000833 Ophthalmologic Surgical Procedure A procedure that uses intense cold to induce a chorioretinal scar and to destroy retinal or choroidal tissue. http://purl.obolibrary.org/obo/SCDO_0001008 Retinal Detachment http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye Separation of the retina from the choroid and eye wall due to holes in the retina and traction on the retina by vitreous bands and condensed preretinal membranes (usually as sequelae of proliferative sickle retinopathy). Retinal detachment is the most severe complication (Stage V) of proliferative sickle retinopathy. http://purl.obolibrary.org/obo/SCDO_0001010 Retrospective Studies http://purl.obolibrary.org/obo/SCDO_0000263 Cohort Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. http://purl.obolibrary.org/obo/SCDO_0001017 Rural Location http://purl.obolibrary.org/obo/SCDO_0000496 Healthcare Access An open swath of land that has few homes or other buildings, and not very many people. http://purl.obolibrary.org/obo/SCDO_0001019 Salmon Patch Hemorrhage http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye Round or oval-shaped intraretinal accumulation of erythrocytes that may be up to 2 mm in diameter. This small intraretinal hematoma is initially red and becomes salmon colored with time. http://purl.obolibrary.org/obo/SCDO_0001020 Sampling Studies http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Studies in which a number of subjects are selected from all subjects in a defined population. Conclusions based on sample results may be attributed only to the population sampled. http://purl.obolibrary.org/obo/SCDO_0001023 SCD Related Pain http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications Pain resulting from the presence of Sickle Cell Disease (SCD). Such pain can be acute, chronic or a mixture of the two. http://purl.obolibrary.org/obo/SCDO_0001025 Scleral Buckling http://purl.obolibrary.org/obo/SCDO_0000833 Ophthalmologic Surgical Procedure An operation for retinal detachment which reduces the size of the globe by indenting the sclera so that it approximates the retina. http://purl.obolibrary.org/obo/SCDO_0001027 Secondary Healthcare http://purl.obolibrary.org/obo/SCDO_0000494 Health System Specialized healthcare delivered as a follow-up or referral from a primary care provider. http://purl.obolibrary.org/obo/SCDO_0001029 Sedentary Lifestyle http://purl.obolibrary.org/obo/SCDO_0000689 Lifestyle Usual level of physical activity that is less than 30 minutes of moderate-intensity activity on most days of the week. http://purl.obolibrary.org/obo/SCDO_0001035 Self Efficacy http://purl.obolibrary.org/obo/SCDO_0000286 Coping Skill Cognitive mechanism based on expectations or beliefs about one's ability to perform actions necessary to produce a given effect. http://purl.obolibrary.org/obo/SCDO_0001037 Self-Reported Weight http://purl.obolibrary.org/obo/SCDO_0000152 Body Weight The weight in kilograms or pounds as reported by the participant. http://purl.obolibrary.org/obo/SCDO_0001043 Serum HDL Cholesterol Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of the HDL cholesterol, the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion, in a specified volume of serum. http://purl.obolibrary.org/obo/SCDO_0001044 SF-36v2 Health Survey http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure A 36-item instrument for measuring health status and outcomes via patient self-report. It is designed for use in surveys of general and specific populations, health policy evaluations, and clinical practice and research. The SF-36v2 measures the following eight health concepts, which are relevant across age, disease, and treatment groups: physical functioning, role limitations due to physical health problems, bodily pain, general health, vitality (energy/fatigue), social functioning, role limitations due to emotional problems, and mental health (psychological distress and psychological well-being). Both standard (4-week) and acute (1-week) recall versions are available. The survey's standardized scoring system yields a profile of eight health scores and two summary measures (physical and mental health) and a self-evaluated change in health status. http://purl.obolibrary.org/obo/SCDO_0001047 Sickle Cell Disease Health-Related Stigma Scale (SCD-HRSS) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure A measure of stigma among adults living with Sickle Cell disease. Focus on; depressive symptoms, pain, assertive communication, satisfaction with pain management experience, and health-related stigma. http://purl.obolibrary.org/obo/SCDO_0001048 Sickle Cell Disease Pain Burden Interview - Youth http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The SCPBI-Y is a brief clinical interview designed to assess pain burden for children and adolescents with SCD. http://purl.obolibrary.org/obo/SCDO_0001050 Sickle Cell Disease Self-Efficacy Scale http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument A nine-item self-administered questionnaire that measures disease-specific perceptions of the ability to manage day-to-day issues resulting from sickle cell disease (SCD). Items are scores according to a five-point scale ranging from 1 - Not sure at all to 5 - Very sure. Responses from individual items are summed to give an overall score with higher scores indicating greater self-efficacy. http://purl.obolibrary.org/obo/SCDO_0001051 Variant Sickle Cell Syndrome http://purl.obolibrary.org/obo/SCDO_1000106 Sickle Cell Disease A variant form of sickle cell disease that results from inheriting the sickle mutation in combination with another beta-globin gene mutation. These hemoglobinopathies may have different clinical severity compared to the homozygous form of sickle cell disease (HbSS). http://purl.obolibrary.org/obo/SCDO_0001052 Sickle Cell Pain Management http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics A form of therapy that employs a coordinated and interdisciplinary approach for easing the suffering and improving the quality of life of those experiencing sickle cell related pain. http://purl.obolibrary.org/obo/SCDO_0001053 Sickle Cell Painful Event http://purl.obolibrary.org/obo/SCDO_0001023 SCD Related Pain Pain lasting at least two hours that requires an unscheduled emergency room visit or hospitalization or that disrupts daily activities. http://purl.obolibrary.org/obo/SCDO_0001054 Sickle Cell Related Cancer http://purl.obolibrary.org/obo/OBI_1110053 Cancer A cancer that is almost exclusively associated with sickle cell trait and/or sickle cell disease. http://purl.obolibrary.org/obo/SCDO_0001055 Sickle Cell Trait http://purl.obolibrary.org/obo/NCIT_C95534 Hemoglobin Trait The condition of being heterozygous for hemoglobin S. http://purl.obolibrary.org/obo/SCDO_0001056 Sickle Cell Disease-S Beta Minus Thalassemia http://purl.obolibrary.org/obo/NCIT_C95539 Sickle Beta Thalassemia A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a reduced amount of hemoglobin A in the red blood cells. It is characterized by the presence of small red blood cells and mild anemia. http://purl.obolibrary.org/obo/SCDO_0001059 Sickle Cell Disease-SC http://purl.obolibrary.org/obo/SCDO_1000163 Compound Heterozygous Sickle Cell Disease One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia. http://purl.obolibrary.org/obo/SCDO_0001062 Sickle Cell Disease-SE http://purl.obolibrary.org/obo/SCDO_1000163 Compound Heterozygous Sickle Cell Disease A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin E mutations, which can cause mild hemolytic anemia. http://purl.obolibrary.org/obo/SCDO_0001063 Sickle Cell Disease-S/Lepore Boston http://purl.obolibrary.org/obo/NCIT_C95539 Sickle Beta Thalassemia Sickle cell-Hb Lepore Boston syndrome is a type of sickle cell disease that differs from homozygous sickle cell disease where both parents carry sickle hemoglobin. In this variant one parent has the sickle cell hemoglobin the second parent has Hb Lepore Boston, the only one of the three Hb Lepore variants described in association with HbS. http://purl.obolibrary.org/obo/SCDO_0001065 obsolete Sickle Cell-Hemoglobin Other than A,C,D,E,O-Arab http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'A variant of sickle cell disease in which individuals have atypical hemoglobin molecules called hemoglobin S together with another form of abnormal hemoglobin, other than hemoglobin C,D,E and O-Arab. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0001067 Sickle Retinopathy http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye Retinal changes of sickle cell disease that can be either proliferative or non-proliferative. In both cases, the changes are caused by erythrostasis secondary to sickling. http://purl.obolibrary.org/obo/SCDO_0001068 Sickling Test http://purl.obolibrary.org/obo/SCDO_1000577 Type of SCD Test A qualitative screening test for sickling haemoglobins, especially HbS. In the SCT, sodium metabisulfite or sodium dithionate is used to desolubilise haemoglobin S to the crystallised deoxygenated form, which causes the abnormal RBCs to sickle, as detected by light microscopy. http://purl.obolibrary.org/obo/SCDO_0001069 Sickness Impact Profile (SIP) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure A generic measure used to evaluate the impact of SCD on both physical and emotional functioning of an affected person. SIP is designed to measure perceived health status and to be used as an outcome measure for evaluation, program planning, and policy formation related to health care. It is designed in such a way as to reflect sensitivity to changes and/or differences in health status and to be applicable across a broad range of types and severities of the SCD illness, as well as different demographic and cultural groups. http://purl.obolibrary.org/obo/SCDO_0001070 deprecated Skin http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'The bodily system consisting of the skin and its associated structures, such as the hair, nails, sweat glands, and sebaceous glands. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0001073 Skin Rash http://purl.obolibrary.org/obo/HP_0011122 Abnormality of Skin Physiology An abnormal change in skin color, appearance, or texture. http://purl.obolibrary.org/obo/SCDO_0001075 Sleep Breathing Disorder http://purl.obolibrary.org/obo/HP_0000708 Behavioural Abnormality An intrinsic sleep disorder characterized by breathing abnormalities. http://purl.obolibrary.org/obo/SCDO_0001076 Sleep Disorders Screener - Adult http://purl.obolibrary.org/obo/SCDO_1000348 Sleep Disorders Screener An interviewer-administered questionnaire which captures routine sleep schedule, sleep deprivation, morningness-eveningness, insomnia, narcolepsy, cataplexy and associated distress. http://purl.obolibrary.org/obo/SCDO_0001077 Slit Lamp http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device A microscope with a light source that can be projected into a linear beam. It allows cross-sectional viewing of the aqueous humor; conjuncteiva; cornea; eyelids; iris; and lens of the eye. http://purl.obolibrary.org/obo/SCDO_0001079 Smoking http://purl.obolibrary.org/obo/SCDO_0000487 Health Behaviour Inhaling and exhaling the smoke of burning tobacco (Cigar, Cigarette, Hookah, Pipe, Smoking, Waterpipe). http://purl.obolibrary.org/obo/SCDO_0001080 Smoking Cessation http://purl.obolibrary.org/obo/SCDO_0001159 Tobacco Use Cessation Discontinuing the habit of smoking. http://purl.obolibrary.org/obo/SCDO_0001082 Social Environment http://purl.obolibrary.org/obo/SCDO_0000435 Environmental Disease Modifier The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community. http://purl.obolibrary.org/obo/SCDO_0001083 Social Functioning http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life Social functioning defines an individual's interactions with their environment and the ability to fulfill their role within such environments as work, social activities, and relationships with partners and family. http://purl.obolibrary.org/obo/SCDO_0001084 Social Isolation http://purl.obolibrary.org/obo/SCDO_0001083 Social Functioning The separation of individuals or groups resulting in the lack of or minimizing of social contact and/or communication. This separation may be accomplished by physical separation, by social barriers and by psychological mechanisms. In the latter, there may be interaction but no real communication. http://purl.obolibrary.org/obo/SCDO_0001085 Social Role http://purl.obolibrary.org/obo/SCDO_0001083 Social Functioning A role that is ascribed to individuals in a community. http://purl.obolibrary.org/obo/SCDO_0001086 Social Role Fulfillment http://purl.obolibrary.org/obo/SCDO_0001083 Social Functioning An extent/ degree to which an individual fulfills the expectations of his/her social role. http://purl.obolibrary.org/obo/SCDO_0001087 Social Skill http://purl.obolibrary.org/obo/SCDO_0001083 Social Functioning The personal set of abilities required to successfully interact and communicate with others, both verbally and non-verbally through gestures, body language and personal appearance. http://purl.obolibrary.org/obo/SCDO_0001088 Social Support http://purl.obolibrary.org/obo/SCDO_0001083 Social Functioning Support systems that provide assistance and encouragement to individuals with physical or emotional disabilities in order that they may better cope. Informal social support is usually provided by friends, relatives, or peers, while formal assistance is provided by churches, groups, etc. http://purl.obolibrary.org/obo/SCDO_0001089 Social Values http://purl.obolibrary.org/obo/SCDO_0000299 Culture Abstract standards or empirical variables in social life which are believed to be important and/or desirable. http://purl.obolibrary.org/obo/SCDO_0001090 Socioeconomic Factors http://purl.obolibrary.org/obo/SCDO_0001082 Social Environment Social and economic factors that characterize the individual or group within the social structure. http://purl.obolibrary.org/obo/SCDO_0001091 Socioeconomic Status http://purl.obolibrary.org/obo/SCDO_0001090 Socioeconomic Factors The combination of one's social class and income level. Includes socioeconomic differences between individuals or groups. http://purl.obolibrary.org/obo/SCDO_0001092 Solubility Test http://purl.obolibrary.org/obo/SCDO_1000577 Type of SCD Test A basic first line test that looks for the presence of abnormal Hemoglobin S in a blood sample. Sodium metabisulfite is added to the blood sample which causes Hb S polymerisation and sickling of red blood cells if Hb S is present. A positive result means that a person has either Sickle Cell Disease or Sickle Cell Trait. Confirmatory tests are needed to distinguish which form of SCD the patient has. http://purl.obolibrary.org/obo/SCDO_0001097 Sphygmomanometer http://purl.obolibrary.org/obo/SCDO_0000710 Manometer Instruments for measuring arterial blood pressure consisting of an inflatable cuff, inflating bulb, and a gauge showing the blood pressure. http://purl.obolibrary.org/obo/SCDO_0001098 Spirituality http://purl.obolibrary.org/obo/SCDO_0000299 Culture Sensitivity or attachment to religious values, or to things of the spirit as opposed to material or worldly interests. http://purl.obolibrary.org/obo/SCDO_0001099 Spirometer http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device A spirometer is an apparatus for measuring the volume of air inspired and expired by the lungs. It is a precision differential pressure transducer for the measurements of respiration flow rates. The spirometer records the amount of air and the rate of air that is breathed in and out over a specified period of time. http://purl.obolibrary.org/obo/SCDO_0001105 Steroid-Resistant Nephrotic Syndrome http://purl.obolibrary.org/obo/SCDO_0000796 Nephrotic Syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication after 8 weeks, specifically in children. http://purl.obolibrary.org/obo/SCDO_0001107 Stigma http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life A perceived attribute that is deeply discrediting and is considered to be a violation of social norms. http://purl.obolibrary.org/obo/SCDO_0001108 Stigmatization http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life An oversimplified perception or conception, especially or persons, social groups, etc. http://purl.obolibrary.org/obo/SCDO_0001112 Stroke Impact Measure http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument This measure is a physical assessment to determine neurological deficits due to a stroke. http://purl.obolibrary.org/obo/SCDO_0001113 Stroke Impact Scale (SIS) http://purl.obolibrary.org/obo/SCDO_0001339 Functionality After Stroke Measure This questionnaire includes 59 proxy- or self-report items in 8 domains that assess multidimensional stroke outcomes in adults. http://purl.obolibrary.org/obo/SCDO_0001114 Stroke Risk Test in Children with Sickle Cell Disease http://purl.obolibrary.org/obo/NCIT_C154865 Cerebral Blood Flow Assay A clinical test to measure the blood flow velocities in intracranial arteries. Elevated intracranial arterial blood flow rates are indicative of expanding vessel lesions and a subsequent increased risk of stroke. http://purl.obolibrary.org/obo/SCDO_0001117 Stuttering Priapism http://purl.obolibrary.org/obo/SCDO_0000923 Priapism The occurrence of multiple self-limited episodes of unwanted, often painful erections lasting <4 hours. http://purl.obolibrary.org/obo/SCDO_0001120 Substance Use History http://purl.obolibrary.org/obo/NCIT_C18772 Personal Medical History Assessment with the goal to obtain a relevant drug and alcohol history and perform a physical examination in order to establish whether there is a diagnosis of a substance use disorder. http://purl.obolibrary.org/obo/SCDO_0001121 Substances - Lifetime Use http://purl.obolibrary.org/obo/SCDO_1000318 Diagnostic Instrument Measurement An indication of whether the respondent has ever used a drug during his or her entire life. http://purl.obolibrary.org/obo/SCDO_0001122 Suicidal Thoughts http://purl.obolibrary.org/obo/SCDO_0000360 Depression Frequent thinking about or preoccupation with killing oneself. http://purl.obolibrary.org/obo/SCDO_0001123 Support Group http://purl.obolibrary.org/obo/SCDO_0001083 Social Functioning Organizations which provide an environment encouraging social interactions through group activities or individual relationships especially for the purpose of rehabilitating or supporting patients, individuals with common health problems, or the elderly. They include therapeutic social clubs. http://purl.obolibrary.org/obo/SCDO_0001129 Supportive Therapeutics http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics Measures aimed at providing appropriate supportive and rehabilitative services to minimize morbidity and maximize quality of life after a long-term disease or injury is present. http://purl.obolibrary.org/obo/SCDO_0001132 Sustained and Selective Attention Diagnostic Instrument http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A computerized test for the assessment of visual attention problems in individuals ages 8 years old and older. http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics Therapeutics that ease the symptoms without addressing the basic cause of the disease. http://purl.obolibrary.org/obo/SCDO_0001136 deprecated Systemic http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'Affecting a number of tissues relating to the entire organism as distinguished from and of its individual parts. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0001140 Tertiary Healthcare http://purl.obolibrary.org/obo/SCDO_0000494 Health System Care of a highly technical and specialized nature, provided in a medical center, usually one affiliated with a university, for patients with unusually severe, complex, or uncommon health problems. http://purl.obolibrary.org/obo/SCDO_0001141 Test of Functional Health Literacy in Adults (TOFHLA) http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure The Test of Functional Health Literacy Assessment (TOFHLA) assesses a patient's level of comprehension of health-related material. It is available in a full-format (a 22-minute test, with 50 reading comprehension items in three passages and 17 numeracy items), an abbreviated format (a 12-minute test, with 36 reading comprehension items in two passages and four numeracy items) and a shortened version (the S-TOFHLA, a 7-minute test, with 36 reading comprehension items in 2 passages.). The passages on the S-TOFHLA use a modified Cloze procedure where every fifth to seventh word is omitted and subjects select the correct word from among a set of four options. The passages contain information about an upper gastrointestinal tract x-ray procedure, and the "Rights and Responsibilities" section from a Medicaid application, and have Gunning-Fox readability indices of fourth and tenth grade, respectively. In early developmental studies, the reading comprehension passages in the S-TOFHLA had a reliability coefficient (Cronbach's alpha) of 0.97 and correlation with the Rapid Estimate of Adult Literacy in Medicine (REALM) of 0.81. Each selection is scored a "1" for correct or a "0" for incorrect and scores are summed over items to create a total score. The 36-point scale of the S-TOFHLA is divided into three categories of functional literacy: inadequate (0-16), adequate (17-22) and functional (23-36). http://purl.obolibrary.org/obo/SCDO_0001146 The Duke Religion Index (DUREL) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The Duke Religion Index (DUREL) is a five item scale which measures religiosity in three areas: organizational religiosity (OR), non-organizational religiosity (NOR), and intrinsic religiosity. Two of the questions were derived from large epidemiologic studies and have been shown to have a strong predictive value for many health outcomes. OR has been related to less depression, more social support, better physical health, lower resource utilization, and lower mortality. NOR has been shown to be related to poorer physical health, and greater social support. The other three items were taken from the Hoge 10- item religiosity scale (Hodge et al 1972). The DUREL has high test-retest reliability (intra-class correlation = 0.91), high internal consistency (Cronbach's alpha's = 0.78--0.91). http://purl.obolibrary.org/obo/SCDO_0001150 Therapeutic Device http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics A medical device used to prevent and treat medical conditions, or to alleviate pain or injury. http://purl.obolibrary.org/obo/SCDO_0001151 Therapeutic Irrigation http://purl.obolibrary.org/obo/SCDO_0001129 Supportive Therapeutics The washing of a body cavity or surface by flowing water or solution for therapy or diagnosis. http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics http://purl.obolibrary.org/obo/SCDO_0001000 SCDO Procedures, agents or devices concerned with the remedial treatment or prevention of diseases. http://purl.obolibrary.org/obo/SCDO_0001158 Indel Mutation http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation A mutation named with the blend of insertion and deletion. It refers to a length difference between two alleles where it is unknowable if the difference was originally caused by a sequence insertion or by a sequence deletion. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a frameshift mutation. http://purl.obolibrary.org/obo/SCDO_0001159 Tobacco Use Cessation http://purl.obolibrary.org/obo/SCDO_0000487 Health Behaviour Ending the tobacco habits of smoking, chewing, or snuff use. http://purl.obolibrary.org/obo/SCDO_0001164 Traditional Healer http://purl.obolibrary.org/obo/SCDO_0000108 Beliefs About Remedies and Treatment A person who practices the art of healing using traditional medicine, a system of medicine based on cultural beliefs and practices handed down from generation to generation. The concept includes mystical and magical rituals (spiritual therapies); phytotherapy (plant therapy) and other treatments which may not be explained by modern medicine. http://purl.obolibrary.org/obo/SCDO_0001165 Trail Making Test http://purl.obolibrary.org/obo/SCDO_0001304 Executive Function Measure An interviewer-administered, two-part test that requires the respondent to organize numerical and alphabetical sequences that are randomly distributed on a piece of paper. The protocol includes instructions for correcting mistakes and instructions for scoring based on speed and accuracy. http://purl.obolibrary.org/obo/SCDO_0001166 Transcranial Doppler Ultrasonography http://purl.obolibrary.org/obo/NCIT_C154865 Cerebral Blood Flow Assay A non-invasive technique using ultrasound for the measurement of cerebrovascular hemodynamics, particularly cerebral blood flow velocity and cerebral collateral flow. With a high-intensity, low-frequency pulse probe, the intracranial arteries may be studied transtemporally, transorbitally, or from below the foramen magnum. http://purl.obolibrary.org/obo/SCDO_0001167 Transcutaneous Electrical Nerve Stimulation http://purl.obolibrary.org/obo/SCDO_0000049 Analgesia The use of specifically placed small electrodes to deliver electrical impulses across the skin to relieve pain. It is used less frequently to produce anesthesia. http://purl.obolibrary.org/obo/SCDO_0001168 Transient Monocular Blindness http://purl.obolibrary.org/obo/HP_0000618 Blindness Temporary loss of vision in one eye due to a lack of blood flow to the retina. http://purl.obolibrary.org/obo/SCDO_0001197 obsolete Twin Study http://purl.obolibrary.org/obo/SCDO_0000941 obsolete Publication Type 'Work consisting of reporting using a method of detecting genetic causes in human traits and genetic factors in behavior using sets of twins. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0001198 Twin Studies as Topic http://purl.obolibrary.org/obo/SCDO_0300004 Epidemiologic Study Characteristics Works about methods of detecting genetic etiology in human traits. The basic premise of twin studies is that monozygotic twins carry identical genes, while zygotic twins are genetically no more similar than two siblings born after separate pregnancies. (Last, J.M., A Dictionary of Epidemiology, 2d ed) http://purl.obolibrary.org/obo/SCDO_0001200 UGT1A1 http://purl.obolibrary.org/obo/SCDO_0000810 Non-Globin Gene This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. http://purl.obolibrary.org/obo/SCDO_0001204 Urban Location http://purl.obolibrary.org/obo/SCDO_0000496 Healthcare Access The region surrounding a city. Most inhabitants of urban areas have nonagricultural jobs. Urban areas are very developed, meaning there is a density of human structures such as houses, commercial buildings, roads, bridges, and railways. http://purl.obolibrary.org/obo/SCDO_0001205 Urinary Albumin Test http://purl.obolibrary.org/obo/SCDO_0000676 Kidney Function Test A bioassay to measure urine concentration of albumin, which is produced by the liver and is the most abundant protein in the blood. http://purl.obolibrary.org/obo/SCDO_0001207 Urinary Protein Measurement http://purl.obolibrary.org/obo/CMO_0000256 Urine Measurement Any measurement of protein present in urine. http://purl.obolibrary.org/obo/SCDO_0001208 deprecated Urinary System http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype The organs and passageways concerned with the production and excretion of urine, including the kidneys, ureters, urinary bladder, and urethra. http://purl.obolibrary.org/obo/SCDO_0001209 Urine Albumin Concentration http://purl.obolibrary.org/obo/SCDO_0001207 Urinary Protein Measurement The amount of albumin in a specified volume of urine. http://purl.obolibrary.org/obo/SCDO_0001210 Urine Albumin Excretion Rate http://purl.obolibrary.org/obo/SCDO_0001207 Urinary Protein Measurement The amount of albumin excreted into the urine within a specified period of time. http://purl.obolibrary.org/obo/SCDO_0001212 Urine Albumin-Creatinine Ratio http://purl.obolibrary.org/obo/SCDO_0001207 Urinary Protein Measurement A comparison of urine microalbumin, that is, a level of albumin in the urine which is above normal but not detectable with routine protein testing, to the amount of creatinine in a specified volume of urine. Often expressed as albumin concentration divided by creatinine concentration times 1000 mg per gram. http://purl.obolibrary.org/obo/SCDO_0001213 Urine Creatinine Concentration http://purl.obolibrary.org/obo/CMO_0000256 Urine Measurement The concentration of creatinine in a urine specimen. http://purl.obolibrary.org/obo/SCDO_0001215 Urine Protein Sulfosalicylic Acid Precipitation Test http://purl.obolibrary.org/obo/SCDO_0000120 Biochemical Assay A method in which sulfosalicylic acid (that is, the SSA reagent) is added to a small and equal volume of clear urine. The acidification causes precipitation of protein in the sample (seen as increasing turbidity), which can be subjectively quantitated visually or more precisely quantitated using photometry. http://purl.obolibrary.org/obo/SCDO_0001218 obsolete Urology http://purl.obolibrary.org/obo/SCDO_0001208 deprecated Urinary System The medical specialty concerned with the study, diagnosis, and treatment of diseases of the genitourinary tract. http://purl.obolibrary.org/obo/SCDO_0001223 Validation Studies http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics Works consisting of research using processes by which the reliability and relevance of a procedure for a specific purpose are established. http://purl.obolibrary.org/obo/SCDO_0001224 Vaping http://purl.obolibrary.org/obo/SCDO_0001079 Smoking Smoking vapors produced from electronic nicotene delivery systems. http://purl.obolibrary.org/obo/SCDO_0001228 Endothelial Function Test http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay A measure of vascular endothelial cell response to stimulation, for example, by vasoactive substances released by or those that interact with the vascular endothelium. http://purl.obolibrary.org/obo/SCDO_0001229 Vaso-Occlusive Crisis http://purl.obolibrary.org/obo/SCDO_0001023 SCD Related Pain Pain resulting from tissue ischemia as a result of blockage of blood vessels, occurring in a variety of vascular beds, but most commonly in the bone or bone marrow and requiring analgesic medication. http://purl.obolibrary.org/obo/SCDO_0001230 Venipuncture http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay Extraction of blood from a vein using a needle. In human, the basilic, cephalic and median cubital veins are most commonly used as well as the femoral vein. http://purl.obolibrary.org/obo/SCDO_0001232 Vineland Adaptive Behavior Scales, Second Edition (Vineland-II) http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument A parent or caregiver questionnaire administered as part of a structured interview that measures day-to-day performance on communication, daily living, socialization, and motor skills. Standard scores can be derived for communication, daily living, socialization, and motor skills subtests or combined to create an Adaptive Behavior Composite (ABC). http://purl.obolibrary.org/obo/SCDO_0001234 Virus http://purl.obolibrary.org/obo/OBI_0000925 Infectious Agent Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells. http://purl.obolibrary.org/obo/SCDO_0001237 Vitrectomy http://purl.obolibrary.org/obo/SCDO_0000833 Ophthalmologic Surgical Procedure Removal of the whole or part of the vitreous body in treating endophthalmitis, diabetic retinopathy, retinal detachment, intraocular foreign bodies, and some types of glaucoma. http://purl.obolibrary.org/obo/SCDO_0001240 Western Blot http://purl.obolibrary.org/obo/SCDO_0000424 Electrophoresis Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes. http://purl.obolibrary.org/obo/SCDO_0001241 Wheezing Episode with Co-Morbid Asthma http://purl.obolibrary.org/obo/SCDO_0000895 Phenotype of Sickle Cell Disease An acute onset of wheezing in a person with SCD and co-morbid asthma. http://purl.obolibrary.org/obo/SCDO_0001246 Witchcraft http://purl.obolibrary.org/obo/SCDO_0000107 Beliefs About Causes of Illness An act of employing sorcery (the use of power gained from the assistance or control of spirits), especially with malevolent intent, and the exercise of supernatural powers and alleged intercourse with the devil or a familiar. (From Webster, 3rd Ed). http://purl.obolibrary.org/obo/SCDO_0001247 World Health Organisation Quality of Life Instrument (WHOQOL) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The WHOQOL is a quality of life assessment developed by the WHOQOL Group with fifteen international field centres, simultaneously, in an attempt to develop a quality of life assessment that would be applicable cross-culturally. http://purl.obolibrary.org/obo/SCDO_0001250 X-Ray Image of Chest http://purl.obolibrary.org/obo/SCDO_0001249 X-Ray Image The visual output that an X-ray machine produces when imaging the chest. http://purl.obolibrary.org/obo/SCDO_0001252 X-Ray Therapy http://purl.obolibrary.org/obo/SCDO_0001129 Supportive Therapeutics Medical treatment involving the use of controlled amounts of X-Rays. http://purl.obolibrary.org/obo/SCDO_0001253 X-Rays http://purl.obolibrary.org/obo/OBI_0001138 X-Ray Machine Penetrating, high-energy electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the gamma rays wavelength range. The distinction between gamma rays and X-rays is based on their radiation source. http://purl.obolibrary.org/obo/SCDO_0001267 EuroQol Five Dimensions Questionnaire (EQ-5D) http://purl.obolibrary.org/obo/SCDO_0000951 Quality of Life and Care Measure The EQ-5D is a widely-used generic instrument for describing health-related quality of life states in five dimensions scored from 1 to 3 or 1 to 5, and a visual analogue scale to record self-rated health state from 0 to100. These provide a simple descriptive profile and a single index value for health status. The EQ-5D can also be used to calculate health utilities and determine the quality-adjusted life years associated with a health state. There is also a youth version (EQ-5D-Y). http://purl.obolibrary.org/obo/SCDO_0001268 Functional Assessment of Chronic Illness Therapy-Spirituality (FACIT-Sp) Scale http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The FACIT-Sp is a 12-item measure that asks participants to indicate how true various statements are about them on a Likert scale of 0 ("not at all") to 4 ("very much"). Responses on the FACIT-Sp are summed to create a total score, ranging from 0 to 48, with higher scores representing higher levels of spirituality. http://purl.obolibrary.org/obo/SCDO_0001284 Behaviour Therapy http://purl.obolibrary.org/obo/SCDO_0000940 Psychotherapy The application of modern theories of learning and conditioning in the treatment of behavior disorders. http://purl.obolibrary.org/obo/SCDO_0001288 Cluster Headache http://purl.obolibrary.org/obo/SCDO_1000000 Acute Phenotype A primary headache disorder that is characterized by severe, strictly unilateral pain which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial sweating, eyelid edema, and miosis. http://purl.obolibrary.org/obo/SCDO_0001292 D57.00 Hb-SS disease with crisis, unspecified http://purl.obolibrary.org/obo/SCDO_0000312 D57.0 Hb-SS disease with crisis Broad term used to describe several different acute conditions occurring with sickle cell disease, including aplastic crisis, hemolytic crisis, and vasoocclusive crisis. http://purl.obolibrary.org/obo/SCDO_0001295 Electrocardiograph http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device An instrument used in the detection and diagnosis of heart abnormalities that measures electrical potentials on the body surface and generates a record of the electrical currents associated with heart muscle activity. http://purl.obolibrary.org/obo/SCDO_0001296 Erythrocyte Transfusion http://purl.obolibrary.org/obo/SCDO_0000138 Blood Component Transfusion The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor. http://purl.obolibrary.org/obo/SCDO_0001299 Evaluation Studies http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics Works consisting of studies determining the effectiveness or utility of processes, personnel, and equipment. http://purl.obolibrary.org/obo/SCDO_0001303 Exchange Transfusion, Whole Blood http://purl.obolibrary.org/obo/SCDO_0000147 Blood Transfusion Repetitive withdrawal of small amounts of blood and replacement with donor blood until a large proportion of the blood volume has been exchanged. Used in treatment of fetal erythroblastosis, hepatic coma, sickle cell anemia, disseminated intravascular coagulation, septicemia, burns, thrombotic thrombopenic purpura, and fulminant malaria. http://purl.obolibrary.org/obo/SCDO_0001304 Executive Function Measure http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire An interviewer-administered test to measure a respondent's system of high-level cognitive functions such as abstract thinking, rule acquisition, cognitive flexibility, and goal-oriented behavior. http://purl.obolibrary.org/obo/SCDO_0001312 deprecated Eye http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype The organ of vision that consists of the eyeball and the optic nerve. http://purl.obolibrary.org/obo/SCDO_0001316 obsolete Facial Paralysis http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Facial paralysis is loss of facial movement because of nerve damage. http://purl.obolibrary.org/obo/SCDO_0001319 Fatigue http://purl.obolibrary.org/obo/HP_0025142 Constitutional Symptom Inability to function due to tiredness related to sickle cell disease. http://purl.obolibrary.org/obo/SCDO_0001320 Feasibility Studies http://purl.obolibrary.org/obo/SCDO_0300004 Epidemiologic Study Characteristics Studies to determine the advantages or disadvantages, practicability, or capability of accomplishing a projected plan, study, or project. http://purl.obolibrary.org/obo/SCDO_0001321 Fentanyl http://purl.obolibrary.org/obo/CHEBI_35482 Opioid A potent narcotic analgesic, abuse of which leads to habituation or addiction. It is primarily a mu-opioid agonist. Fentanyl is also used as an adjunct to general anesthetics, and as an anesthetic for induction and maintenance. http://purl.obolibrary.org/obo/SCDO_0001322 Serum Ferritin Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A bioassay to measure the serum concentration of ferritin (i.e., iron). http://purl.obolibrary.org/obo/SCDO_0001323 Serum Ferritin Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of ferritin found in a specified volume of serum. http://purl.obolibrary.org/obo/SCDO_0001325 Flow Cytometer http://purl.obolibrary.org/obo/SCDO_0000376 Diagnostic Device An instrument which is used to count and sort microscopic particles suspended in a buffer. This instrument consists of a flow cell, at least one lamp or laser, a variable number of emission detectors or photomultipliers, a system that converts analog signals to digital, and a computer to run the system and collect and analyze the data output. http://purl.obolibrary.org/obo/SCDO_0001326 Flow Cytometry http://purl.obolibrary.org/obo/SCDO_0000896 Physical Detection Method Flow cytometry uses the principles of light scattering and fluorescence from fluorochrome molecules to generate specific multi-parameter data from particles and cells in the size range of 0.5um to 40um diameter. http://purl.obolibrary.org/obo/SCDO_0001327 Fluorescein Angiography http://purl.obolibrary.org/obo/OBI_0000185 Imaging Assay Visualization of a vascular system after intravenous injection of a fluorescein solution. The images may be photographed or televised. It is used especially in studying the retinal and uveal vasculature. http://purl.obolibrary.org/obo/SCDO_0001328 Focal Dystonia http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. http://purl.obolibrary.org/obo/SCDO_0001329 Folic Acid http://purl.obolibrary.org/obo/CHEBI_23888 Drug A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (poaceae). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia. http://purl.obolibrary.org/obo/SCDO_0001330 Follow-Up Studies http://purl.obolibrary.org/obo/SCDO_0000263 Cohort Studies Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease. http://purl.obolibrary.org/obo/SCDO_0001334 Chronic Phenotype http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An observable characteristic of disease that is persistent and long standing. http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Terms deprecated in the "Phenotype" class. http://purl.obolibrary.org/obo/SCDO_0001339 Functionality After Stroke Measure http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument A questionnaire to measure the health status of individuals who had a stroke. http://purl.obolibrary.org/obo/SCDO_0001340 deprecated Gastrointestinal System http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'The system concerned with the function and disorders of the gastrointestinal tract, including stomach, intestines, and associated organs including liver, pancreas and gall bladder. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0001342 Gene-Environment Interaction http://purl.obolibrary.org/obo/SCDO_0000391 Disease Modifier Combined effects of genotypes and environmental factors together to affect phenotypic characteristics. http://purl.obolibrary.org/obo/SCDO_0001369 Genetic Variation http://purl.obolibrary.org/obo/SCDO_0000765 Genetic Phenomena Deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents. http://purl.obolibrary.org/obo/SCDO_0001373 deprecated beta C mutation http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'To be defined by an expert [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0001376 deprecated beta E mutation http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'To be defined by an expert [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0001377 deprecated beta S mutation http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'To be defined by an expert [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0001378 HBA1 http://purl.obolibrary.org/obo/SCDO_1000361 Alpha-Globin Gene This gene provides instructions for making a protein called alpha-globin, which is involved in oxygen transport. This protein is also produced from a nearly identical gene called HBA2. http://purl.obolibrary.org/obo/SCDO_0001379 HBA2 http://purl.obolibrary.org/obo/SCDO_1000361 Alpha-Globin Gene This gene provides instructions for making a protein called alpha-globin, which is involved in oxygen transport. This protein is also produced from a nearly identical gene called HBA1. http://purl.obolibrary.org/obo/SCDO_0001382 Hemoglobin Subunit Gamma http://purl.obolibrary.org/obo/SCDO_1000012 Beta-Globin Family Members Gamma Globin is a type of polypeptide chain that when in combination with alpha globin chains forms fetal hemoglobin. Beta-Hemoglobin subunits gamma-1 (147 aa, ~16 kDa) and gamma-2 (147 aa, ~16 kDa) are encoded by the human HBG1 and HBG2 gene respectively, in the beta-globin gene cluster. These proteins play a role in the transport of oxygen to tissues of the fetal body. http://purl.obolibrary.org/obo/SCDO_0001385 Absence of Alpha Globin Synthesis with Gamma Globin Synthesis http://purl.obolibrary.org/obo/SCDO_0001384 Reduced Alpha/Gamma Synthesis Ratio The state, in utero or shortly after birth, in which all four alpha globin genes are deleted or inactivated resulting in absent alpha globin synthesis. If gamma globin synthesis persists, then the resulting phenotype is hemoglobin Barts (four gamma chains) and hemoglobin Bart hydrops fetalis. http://purl.obolibrary.org/obo/SCDO_0001386 Alpha-Globin Locus Deletion http://purl.obolibrary.org/obo/NCIT_C19296 Deletion Mutation A deletion in or of the HBA1 or HBA2 gene that can result in some form of alpha thalassemia. http://purl.obolibrary.org/obo/SCDO_0001387 Homozygous Deletion of HBA1 and HBA2 http://purl.obolibrary.org/obo/SCDO_0001386 Alpha-Globin Locus Deletion Deletion of all four alpha-globin genes resulting in the most severe form of alpha thalassemia, Hemoglobin Barts Hydrops Fetalis. http://purl.obolibrary.org/obo/SCDO_0001388 Insertion http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt genetic translation of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation. http://purl.obolibrary.org/obo/SCDO_0001436 Oxygen Therapy http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics The administration of oxygen to an individual. It is of paramount importance in the peri-operative care of SCD patients as hypoxaemia predisposes to sickling. http://purl.obolibrary.org/obo/SCDO_0001511 Renal Medullary Carcinoma http://purl.obolibrary.org/obo/SCDO_0001054 Sickle Cell Related Cancer Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis. http://purl.obolibrary.org/obo/SCDO_0001551 Ethnolinguistics http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor A part of anthropological linguistics concerned with the interrelation between a language and the cultural behavior of those who speak it. http://purl.obolibrary.org/obo/SCDO_0001604 Steady State http://purl.obolibrary.org/obo/SCDO_0000895 Phenotype of Sickle Cell Disease That period when the patient with sickle cell anaemia is free of infection, pain, or other disease processes. http://purl.obolibrary.org/obo/SCDO_0001611 deprecated-Renal Insufficiency http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. http://purl.obolibrary.org/obo/SCDO_0001624 Non-Anemic http://purl.obolibrary.org/obo/NCIT_C3833 Asymptomatic Not anemic, i.e. no reduction in erythrocytes volume and/or hemoglobin concentration. http://purl.obolibrary.org/obo/SCDO_0001626 Nonsense Codon http://purl.obolibrary.org/obo/SCDO_0004623 Codon An amino acid-specifying codon that has been converted to a stop codon by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. http://purl.obolibrary.org/obo/SCDO_0001715 deprecated-Neuropathic Pain http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury. This pain is usually described as burning, numb, tingling, lancinating, shooting, or paroxysmal in nature and is associated with a sensation of pins and needles. Its severity is also enhanced by exposure to either cold or heat. http://purl.obolibrary.org/obo/SCDO_0001751 Homozygous Deletion of HBA2 http://purl.obolibrary.org/obo/SCDO_0001386 Alpha-Globin Locus Deletion Deletion of both HBA2 genes, which results in an alpha-thal-2 (alpha-/alpha-) form of alpha thalassemia trait. With this deletion there is nearly normal production of red blood cells, but there may be a mild anemia. http://purl.obolibrary.org/obo/SCDO_0001851 Tachycardia http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology A rapid heartrate that exceeds the range of the normal resting heartrate for age, gender or patient population. http://purl.obolibrary.org/obo/SCDO_0001997 Crystallisation of Hemoglobin http://purl.obolibrary.org/obo/SCDO_1000253 Abnormal Biological Process The process whereby a mutation in a hemoglobin molecule causes conformational changes in the hemoglobin molecule, which cause increased hydrophobicity of the molecule, which result in the formation of crystals consisting of the mutated hemoglobin molecules. This type of crystallisation is observed in hemoglobins with the HbC mutation. http://purl.obolibrary.org/obo/SCDO_0002039 Zinc Deficiency http://purl.obolibrary.org/obo/SCDO_1000261 Avitaminosis A deficiency of the essential metal Zinc; an essential cofactor for many enzymes. Zinc deficiency is caused by a lack of zinc in the diet, loss of zinc after absorption, for example through loss through burns, inability to absorb Zinc, or increased loss through exercise. http://purl.obolibrary.org/obo/SCDO_0002107 deprecated-Nature of Mutations http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms This represents the phenotypic feature of mutational effects on a given property of an organism biological system [Gaston K. Mazandu, []]. http://purl.obolibrary.org/obo/SCDO_0002125 Confidentiality http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics The privacy of information and its protection against unauthorized disclosure. http://purl.obolibrary.org/obo/SCDO_0002130 Transcriptome http://purl.obolibrary.org/obo/SCDO_0005722 Genetic Structure The pattern of gene expression at the level of genetic transcription in a specific organism or under specific circumstances in specific cells. http://purl.obolibrary.org/obo/SCDO_0002240 Disease Severity http://purl.obolibrary.org/obo/NCIT_C43646 Association The presence and extensiveness of a disease in the body. It is objectively evaluated through diagnostic testing and physiological examination of the impaired biological organs or tissues, in cases in which disease severity can be distinguished from other realms of health, as in heart disease. http://purl.obolibrary.org/obo/SCDO_0002243 Research Participant Compensation http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute Reimbursement of research participants for costs directly incurred during the research, such as travel costs and reasonable compensation for their inconvenience and time spent. Compensation can be monetary or non-monetary. http://purl.obolibrary.org/obo/SCDO_0002305 Hemoglobin D Disease Causal Mutation http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation A mutation wholly or partly responsible for causing Hemoglobin D Disease. http://purl.obolibrary.org/obo/SCDO_0002337 Ethical Conduct http://purl.obolibrary.org/obo/SCDO_1000430 Ethics Related Concept The abiding by applicable principles such as 1. compliance by research institutions; 2. obtaining and documenting informed consent; 3. Research Ethics Committee membership function, operations, review of research, and record keeping; 4. additional protection for certain vulnerable research subjects - pregnant women, prisoners, and children http://purl.obolibrary.org/obo/SCDO_0002475 Beta-Zero Thalassemia Mutation http://purl.obolibrary.org/obo/SCDO_0009731 Beta Thalassemia Mutation A mutation in the beta-globin gene, HBB, that results in absent beta globin synthesis. http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the body's metabolism or homeostasis. http://purl.obolibrary.org/obo/SCDO_0002798 Pharmacogenomic Variants http://purl.obolibrary.org/obo/NCIT_C17004 Genetic Polymorphism Naturally occurring genetic variations associated with drug response. While these variants are not markers for genetic predisposition to disease, they influence pharmacokinetics and pharmacodynamics and often occur on genes encoding drug metabolism enzymes and transporters (e.g., angiotensin converting enzyme; cytochrome P-450 CYP2D6). http://purl.obolibrary.org/obo/SCDO_0002814 deprecated Globin Gene http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'The hemoglobin molecule that transports oxygen in the blood is made up of a number of components. Human hemoglobin is a tetramer: in adults it is made up of two alpha globins and two beta globins; in the fetus, of two alpha and two g globins; and in the embryo, two e and two z globins. The sequences of these five globin types are similar and the genes that code for them occur in clusters on the chromosomes. In humans, there are two main clusters of globin genes: the alpha globin cluster on chromosome 16 and the beta globin cluster on chromosome 11. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0002829 Sample http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A sample is a limited quantity of something (e.g. an individual or set of individuals from a population, or a portion of a material) to be used for testing, analysis, inspection, investigation, demonstration, or trial use. http://purl.obolibrary.org/obo/SCDO_0002939 Polymerised Hemoglobin http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin Deoxygenated malfunctioning or mutated hemoglobins which clump together and form a long polymer in a process called polymerisation. http://purl.obolibrary.org/obo/SCDO_0003028 Ethnic Status http://purl.obolibrary.org/obo/SCDO_0001551 Ethnolinguistics A person's ethnic status, whether conserved or mixed ethnicity. http://purl.obolibrary.org/obo/SCDO_0003065 obsolete Non-SCD Structural Variants http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Genetic variation in the structure leading to the abnomality of protein structure in non-sickle cell disease hemoglobin. http://purl.obolibrary.org/obo/SCDO_0003572 Consent Form http://purl.obolibrary.org/obo/SCDO_0007597 Descriptor of Consent Documents describing a medical treatment or research project, including proposed procedures, risks, and alternatives, that are to be signed by an individual, or the individual's proxy, to indicate his/her understanding of the document and a willingness to undergo the treatment or to participate in the research. http://purl.obolibrary.org/obo/SCDO_0003675 Single Nucleotide Polymorphism http://purl.obolibrary.org/obo/NCIT_C17004 Genetic Polymorphism A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. http://purl.obolibrary.org/obo/SCDO_0003696 Peripheral Blood Film http://purl.obolibrary.org/obo/NCIT_C79903 Blood Smear A procedure in which a sample of peripheral blood is viewed under a microscope to count different circulating blood cells (red blood cells, white blood cells, platelets, etc.) and see whether the cells look normal. http://purl.obolibrary.org/obo/SCDO_0003712 Proxy Consent http://purl.obolibrary.org/obo/NCIT_C25460 Consent A legal representation or family member of the participant gives consent on behalf of the patient. http://purl.obolibrary.org/obo/SCDO_0003736 Dynamic Consent http://purl.obolibrary.org/obo/SCDO_0007087 Informed Consent Dynamic consent is a personalised, communication interface to enable greater participant engagement in clinical and research activities.The interface facilitates two-way communication to stimulate a more engaged, informed and scientifically literate participant population where individuals can tailor and manage their own consent preferences. It has the potential to be applied more broadly to situations where there are multiple and varied uses of data requiring different kinds of consent over a period of time. http://purl.obolibrary.org/obo/SCDO_0003742 Splenectomy http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics Surgical procedure involving either partial or entire removal of the spleen. http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin http://purl.obolibrary.org/obo/SCDO_0006921 Hemoglobin Variant Hemoglobin characterized by structural alterations within the molecule that confer an inherited health condition phenotype. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. http://purl.obolibrary.org/obo/SCDO_0003894 Gap PCR http://purl.obolibrary.org/obo/SCDO_0000913 Polymerase Chain Reaction The polymerase chain reaction (PCR) is the most common method to detect the deletional thalassaemias. Gap-PCR amplifies the deleted DNA sequence using the primers flanking the deleted region 10. Three primers are designed for each deletion to amplify the normal (undeleted) and deleted gene sequences. http://purl.obolibrary.org/obo/SCDO_0004061 Genotype http://purl.obolibrary.org/obo/SCDO_0000765 Genetic Phenomena The genetic constitution of the individual, comprising the alleles present at each genetic locus. http://purl.obolibrary.org/obo/SCDO_0004078 Girdle Syndrome http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Characterized by an established ileus, with vomiting, a silent distended abdomen and distended bowel loops and fluid levels on abdominal x-ray. Some hepatic enlargement is common, and it is often associated with bilateral basal lung consolidation (chest syndrome). http://purl.obolibrary.org/obo/SCDO_0004139 Adult Hemoglobin http://purl.obolibrary.org/obo/SCDO_0006835 Normal Hemoglobin The most common and normal adult human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin and consisting of two alpha chains and two beta chains. http://purl.obolibrary.org/obo/SCDO_0004187 Hemolytic Crisis http://purl.obolibrary.org/obo/HP_0001871 Abnormality of Blood and Blood-Forming Tissues May be caused by an acute VOC, malarial infection or oxidant drug exposure in individuals with concomitant glucose-6-phosphate dehydrogenase (G6PD) deficiency. Haemolytic crisis may be distinguished from aplastic crisis by the finding of a reticulocytosis as opposed to a reticulocytopenia. http://purl.obolibrary.org/obo/SCDO_0004277 Assent http://purl.obolibrary.org/obo/SCDO_0007597 Descriptor of Consent A term used to express willingness to participate in research by persons who are by definition too young to give informed consent but who are old enough to understand the proposed research in general, its expected risks and possible benefits, and the activities expected of them as subjects. http://purl.obolibrary.org/obo/SCDO_0004444 Delta Beta Globin Fusion Chain http://purl.obolibrary.org/obo/SCDO_1000012 Beta-Globin Family Members The protein product of the fusion of the gene products of the HBD and HBB genes that causes the mutation which causes the Hemoglobin Lepore Trait. http://purl.obolibrary.org/obo/SCDO_0004576 Chronic Hypersplenism http://purl.obolibrary.org/obo/SCDO_0006905 Hypersplenism Chronic splenic sequestration associated with enlarged spleen and cytopaenia with anaemia and reduction in white blood cells and platelets. The anaemia is usually chronic in nature and patients rarely present with signs of heart failure. http://purl.obolibrary.org/obo/SCDO_0004598 Anticodon http://purl.obolibrary.org/obo/SCDO_0005593 Genetic Code The sequential set of three nucleotides in transfer RNA that interacts with its complement in messenger RNA, the Codon, during translation in the ribosome. http://purl.obolibrary.org/obo/SCDO_0004623 Codon http://purl.obolibrary.org/obo/SCDO_0005593 Genetic Code Also known as sense codon, a set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (terminator codon). Most codons are universal, but some organisms do not produce the transfer RNAs complementary to all codons. These codons are referred to as unassigned codons (nonsense codons). http://purl.obolibrary.org/obo/SCDO_0004716 Initiator Codon http://purl.obolibrary.org/obo/SCDO_0004623 Codon A codon that directs initiation of protein translation (Translation, Genetic) by stimulating the binding of initiator tRNA (RNA, TRANSFER, MET). In prokaryotes, the codons AUG or GUG can act as initiators while in eukaryotes, AUG is the only initiator codon. http://purl.obolibrary.org/obo/SCDO_0004829 Transient Ischemic Attack http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). http://purl.obolibrary.org/obo/SCDO_0004836 Angina http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology A chest pain that is caused when your heart muscle doesn't get enough oxygen-rich blood. http://purl.obolibrary.org/obo/SCDO_0004847 Acute Hepatic Sequestration http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the Liver A rarely recognized complication of vaso-occlusive crisis. It is characterized by a presentation of right upper quadrant pain in the liver. A smooth, tender, enlarged liver is noted on physical exam. The lab values show a decrease in the hemoglobin/hematocrit. An increase in reticulocyte count is also seen. http://purl.obolibrary.org/obo/SCDO_0004860 deprecated-Amoxicillin http://purl.obolibrary.org/obo/SCDO_1000035 from therapeutics 'A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0004888 Functional Hyposplenism http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the Spleen An acquired disorder caused by several hematological and immunological diseases and characterized by impairment of splenic function. http://purl.obolibrary.org/obo/SCDO_0004905 Beta-Globin Locus Deletion http://purl.obolibrary.org/obo/NCIT_C19296 Deletion Mutation Deletion of a part of the beta-globin locus. http://purl.obolibrary.org/obo/SCDO_0005167 Chronic Anemia http://purl.obolibrary.org/obo/HP_0001903 Anemia Long lasting form of anemia. http://purl.obolibrary.org/obo/SCDO_0005191 Hyperhemolysis http://purl.obolibrary.org/obo/SCDO_0000895 Phenotype of Sickle Cell Disease An increase in the rate of hemolysis, in conjunction with specific clinical complications of sickle cell disease. http://purl.obolibrary.org/obo/SCDO_0005243 Comparative Genomic Hybridisation http://purl.obolibrary.org/obo/SCDO_0000448 Genetic Technique A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations. http://purl.obolibrary.org/obo/SCDO_0005279 deprecated High Reticulocyte Count http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms An abnormally high number of reticulocytes per unit volume of blood. The normal fraction of reticulocytes in the blood depends on the clinical situation but is usually 0.5% to 2.5% in adults and 2% to 6% in infants. http://purl.obolibrary.org/obo/SCDO_0005339 Globin Phenotype http://purl.obolibrary.org/obo/SCDO_0009613 Protein Phenotype The physical characteristics of the globin polypeptides that form hemoglobins. http://purl.obolibrary.org/obo/SCDO_0005379 Database http://purl.obolibrary.org/obo/SCDO_0300003 Publication Formats Work consisting of a structured file of information or a set of logically related data stored and retrieved using computer-based means. http://purl.obolibrary.org/obo/SCDO_0005446 Fetal Hemoglobin http://purl.obolibrary.org/obo/SCDO_0006835 Normal Hemoglobin The major component of hemoglobin in the fetus. This hemoglobin has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by leukemia and several types of anemia. http://purl.obolibrary.org/obo/SCDO_0005464 Myocardial Ischemia http://purl.obolibrary.org/obo/SCDO_0000665 Ischemia A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). http://purl.obolibrary.org/obo/SCDO_0005580 deprecated-Avascular Necrosis of the Femoral Head http://purl.obolibrary.org/obo/NCIT_C118385 deprecated-Avascular Necrosis Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. http://purl.obolibrary.org/obo/SCDO_0005593 Genetic Code http://purl.obolibrary.org/obo/SCDO_0005722 Genetic Structure The meaning ascribed to the base sequence with respect to how it is translated into amino acid sequence. The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons. http://purl.obolibrary.org/obo/SCDO_0005671 HBB and HBD Deletion http://purl.obolibrary.org/obo/SCDO_1000366 Delta Beta Thalassemia Mutation Deletion of the HBB and HBD genes that results in delta-beta thalassemia. http://purl.obolibrary.org/obo/SCDO_0005722 Genetic Structure http://purl.obolibrary.org/obo/SCDO_0000765 Genetic Phenomena A biological object that contains genetic information and that is involved in transmitting genetically encoded traits from one organism to another. http://purl.obolibrary.org/obo/SCDO_0005927 Justice http://purl.obolibrary.org/obo/GSSO_003239 Ethical Principle An ethical principle that obligates one to treat people fairly. Distributive justice refers to allocating benefits and harms fairly; procedural justice refers to using fair processes to make decisions that affect people; formal justice refers to treating similar cases in the same way. In human subjects research, the principle of justice implies that subjects should be selected equitably. http://purl.obolibrary.org/obo/SCDO_0006000 Fever http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis Elevated body temperature due to failed thermoregulation, or inflammation or immune responses. http://purl.obolibrary.org/obo/SCDO_0006036 Minor http://purl.obolibrary.org/obo/SCDO_0002125 Confidentiality A person who has not attained the age at which full civil rights are accorded. http://purl.obolibrary.org/obo/SCDO_0006070 Mixed Ethnicity http://purl.obolibrary.org/obo/SCDO_0003028 Ethnic Status An ethnic group that includes persons with significant ethnic contributions from more than one group. http://purl.obolibrary.org/obo/SCDO_0006339 Research http://purl.obolibrary.org/obo/SCDO_0001000 SCDO Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. http://purl.obolibrary.org/obo/SCDO_0006429 Gallbladder Empyema http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System An uncommon complication of cholecystitis and refers to a situation where the gallbladder lumen is filled and distended by purulent material (pus). http://purl.obolibrary.org/obo/SCDO_0006517 Human Subject Research http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics Research involving the collection, storage, or use of private data or biological samples from living individuals by means of interactions, interventions, surveys, or other research methods or procedures. http://purl.obolibrary.org/obo/SCDO_0006589 Cordocentesis http://purl.obolibrary.org/obo/SCDO_0000505 Hematology Screening Test The collecting of fetal blood samples typically via endoscopic ultrasound guided fine needle aspiration from the umbilical vein, followed by examination of the blood to detect fetal abnormalities. http://purl.obolibrary.org/obo/SCDO_0006613 Material Transfer Agreement http://purl.obolibrary.org/obo/SCDO_0300006 Information Disclosure A material transfer agreement (MTA) is a type of legally enforceable contract employed by research institutions and companies to set the terms under which their materials and associated data may be obtained and used by others. http://purl.obolibrary.org/obo/SCDO_0006706 Bioethics http://purl.obolibrary.org/obo/NCIT_C39796 Ethics A branch of applied ethics that studies the value implications of practices and developments in life sciences, medicine, and health care. http://purl.obolibrary.org/obo/SCDO_0006832 Ascorbic Acid Deficiency http://purl.obolibrary.org/obo/SCDO_1000261 Avitaminosis A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177) http://purl.obolibrary.org/obo/SCDO_0006833 Moyamoya Disease http://purl.obolibrary.org/obo/SCDO_0000267 Comorbid Disease A rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. http://purl.obolibrary.org/obo/SCDO_0006835 Normal Hemoglobin http://purl.obolibrary.org/obo/NCIT_C16676 Hemoglobin Hemoglobin that presents no inherited health condition phenotype. http://purl.obolibrary.org/obo/SCDO_0006847 Aplastic Crisis http://purl.obolibrary.org/obo/SCDO_1000000 Acute Phenotype An acute form of acquired red cell aplasia. A significant change in blood picture is observed, characterised by a precipitous fall in the haemoglobin level (>20 g/l beyond steady state level) and reduced (<1%) or absent reticulocytes in the peripheral blood. The total white blood cell or platelet counts may or may not be affected. In addition, there is no significant increase in the unconjugated fraction of serum bilirubin.The most common cause is infection by parvovirus B19, a DNA virus that replicates inside immature red blood cells in the bone marrow, resulting in severe anaemia (hemoglobin levels well below steady state) and low reticulocyte count. It is rarely recurrent. http://purl.obolibrary.org/obo/SCDO_0006860 HBG1 and/or HBG2 Mutations http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation Mutations in the HBG1 and/or HBG2 genes. Such mutations can lead to variably increased levels of fetal hemoglobin (Hb) (Hb F, alpha2gamma2) in the syndrome of hereditary persistence of fetal Hb (HPFH). http://purl.obolibrary.org/obo/SCDO_0006905 Hypersplenism http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the Spleen Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy. http://purl.obolibrary.org/obo/SCDO_0006909 Hyper-Hemolytic Crisis http://purl.obolibrary.org/obo/SCDO_0004187 Hemolytic Crisis Significant change in blood picture characterised by a precipitous fall in the haemoglobin level associated with jaundice, marked reticulocytosis, and polychromasia on the blood smear, increased unconju- gated hyperbilirubinaemia, and increased urobilinogen content in urine above the steady state level for each individual patient. http://purl.obolibrary.org/obo/SCDO_0006911 Conserved Ethnicity http://purl.obolibrary.org/obo/SCDO_0003028 Ethnic Status An ethnic group that includes persons with ethnic contributions from only one ethnic group. http://purl.obolibrary.org/obo/SCDO_0006921 Hemoglobin Variant http://purl.obolibrary.org/obo/NCIT_C16676 Hemoglobin Hemoglobin with altered structural and biochemical properties. http://purl.obolibrary.org/obo/SCDO_0007087 Informed Consent http://purl.obolibrary.org/obo/NCIT_C25460 Consent Voluntary authorization, by a patient or research subject, with full comprehension of the risks involved, for diagnostic or investigative procedures, and for medical and surgical treatment. http://purl.obolibrary.org/obo/SCDO_0007161 Acute Splenic Sequestration Crisis http://purl.obolibrary.org/obo/SCDO_1000000 Acute Phenotype Significant change in blood picture characterised by a precipitous fall in the haemoglobin level of at least 20 g/l and accompanied by a rapidly enlarging spleen or liver (greater than 2 cm from the steady state level) and reticulocytosis above the steady state level for each individual patient. Signs of acute circulatory insufficiency such tachypnoea, tachycardia, and hypotension may or may not be present. It is the earliest life-threatening complication seen in patients with SCD besides pneumococcal infections. http://purl.obolibrary.org/obo/SCDO_0007192 Quantitative Hemoglobinopathy http://purl.obolibrary.org/obo/SCDO_0000552 Hemoglobinopathy A hemoglobinopathy caused by a reduced or imbalanced synthesis of a normal globin chain or by a defect in the switch between synthesis of different types of normal hemoglobin. http://purl.obolibrary.org/obo/SCDO_0007212 obsolete Other Molecules http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'Other molecules are complexes which do not contain protein or RNA, including lipids, carbohydrates, etc.' http://purl.obolibrary.org/obo/SCDO_0007281 Adrenal Insufficiency http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the Adrenal Glands Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. http://purl.obolibrary.org/obo/SCDO_0007495 Risk http://purl.obolibrary.org/obo/SCDO_0006339 Research The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. http://purl.obolibrary.org/obo/SCDO_0007519 Community Engagement http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics A process of inclusive participation that supports mutual respect of values, strategies, and actions for authentic partnership of people affiliated by geographic location, shared interest, or similar circumstances to address issues affecting community wellbeing. http://purl.obolibrary.org/obo/SCDO_0007565 deprecated Major Area http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Distinct geographical area. http://purl.obolibrary.org/obo/SCDO_0007618 deprecated-Avascular necrosis of the humeral head http://purl.obolibrary.org/obo/NCIT_C118385 deprecated-Avascular Necrosis In situ death of bone within the humeral head due to disruption of blood supply. http://purl.obolibrary.org/obo/SCDO_0007623 Molecular Phenotype http://purl.obolibrary.org/obo/OGMS_0000023 Phenotype The molecular characteristics of a cell of tissue including expressed coding and non-coding RNAs, proteins and their post-translational modifications, lipids, carbohydrates and small molecules that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment. http://purl.obolibrary.org/obo/SCDO_0007624 Beta Thalassemia Genotype http://purl.obolibrary.org/obo/SCDO_0004061 Genotype HBB genetic variants that result in reduced or absent hemoglobin subunit beta production. http://purl.obolibrary.org/obo/SCDO_0007656 Sickle Cell Thalassemia http://purl.obolibrary.org/obo/SCDO_1000215 Structural and Quantitative Hemoglobinopathy Hemolytic anemia, in which patients are compound or double heterozygous for both the sickle cell gene and a thalassemia gene. http://purl.obolibrary.org/obo/SCDO_0007897 Ethics Approval http://purl.obolibrary.org/obo/SCDO_1000430 Ethics Related Concept A document containing the determination of the Research Ethics Committee (REC) that the clinical study with human subject participation has been reviewed and may be conducted at a particular study site within the constraints set forth by the REC and other institutional and federal requirements. The regulations require that an REC conduct continuing review of research at intervals appropriate to the degree of risk, but not less than once a year. http://purl.obolibrary.org/obo/SCDO_0007900 Embryonic Hemoglobin http://purl.obolibrary.org/obo/SCDO_0006835 Normal Hemoglobin Hemoglobin produced in the blood islands in the embryonic yolk sac during the mesoblastic stage of gestation. There are four different embryonic hemoglobins, Hemoglobin Gower 1, Hemoglobin Gower 2, Hemoglobin Portland 1 and Hemoglobin Portland 2. http://purl.obolibrary.org/obo/SCDO_0008037 Acute Symptomatic Seizure http://purl.obolibrary.org/obo/SCDO_1000000 Acute Phenotype A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. It is often associated with infections, infarctions, and severe metabolic or sickle cell complications. http://purl.obolibrary.org/obo/SCDO_0008251 Homozygous Deletion of HBA1 http://purl.obolibrary.org/obo/SCDO_0001386 Alpha-Globin Locus Deletion Deletion of both HBA1 genes, which results in an alpha-thal-2 (alpha-/alpha-) form of alpha thalassemia trait. With this deletion there is nearly normal production of red blood cells, but there may be a mild anemia. http://purl.obolibrary.org/obo/SCDO_0008262 Structural Hemoglobinopathy http://purl.obolibrary.org/obo/SCDO_0000552 Hemoglobinopathy A hemoglobinopathy caused by the presence of structurally abnormal hemoglobins. http://purl.obolibrary.org/obo/SCDO_0008595 Chronic Arthritis http://purl.obolibrary.org/obo/HP_0001369 Arthritis Persistence of an inflammatory event in the articulation overtime. http://purl.obolibrary.org/obo/SCDO_0008623 Vaso-Occlusion http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology The obstruction of blood vessels by altered erythrocytes that can result in pain, anemia and tissue ischemia. http://purl.obolibrary.org/obo/SCDO_0008625 Right Upper Quadrant Syndrome http://purl.obolibrary.org/obo/SCDO_0000895 Phenotype of Sickle Cell Disease Characterized by pain and discomfort in the right upper quadrant (RUQ) of the abdomen caused by a number of possible aetiologies in sickle cell disease. Causes of RUQ pain may be divided into pain originating from the liver or gall bladder versus other origins of abdominal pain in that region. http://purl.obolibrary.org/obo/SCDO_0008688 Biobank http://purl.obolibrary.org/obo/SCDO_0300003 Publication Formats A biobank is a collections of samples of biological substances (e.g. tissue, blood, DNA) which are linked to data about the samples and their donors. They have a dual nature as collections of samples and data and usually require investigators or institutions to agree to certain conditions as a condition for sharing samples or data with them. http://purl.obolibrary.org/obo/SCDO_0008713 Sickle Cell Anemia Associated with Alpha Thalassemia http://purl.obolibrary.org/obo/SCDO_1000106 Sickle Cell Disease The concurrence of sickle cell anemia and alpha-thalassemia. This condition is thought to result in less severe hemolytic anemia due to reduced concentration of hemoglobin S and its polymerization within red blood cells. http://purl.obolibrary.org/obo/SCDO_0008778 Dental Radiograph http://purl.obolibrary.org/obo/SCDO_0000963 Radiography A radiograph of dental structures made on x-ray film or stored as a digital image. The radiographs may be extraoral or intraoral. Three common types of intraoral dental images are periapical, interproximal, and occlusal radiographs. http://purl.obolibrary.org/obo/SCDO_0008888 Iron Chelation Therapy http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics The removal of excess iron from the body with special drugs. http://purl.obolibrary.org/obo/SCDO_0008925 Autonomy http://purl.obolibrary.org/obo/GSSO_003239 Ethical Principle The capacity for self-governance, i.e. the ability to make reasonable decisions. http://purl.obolibrary.org/obo/SCDO_0008937 Central Retinal Artery Occlusion http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology Blockage of blood flow in the central retinal artery. Results in sudden painless loss of vision and occurs in children and young adults. Thrombus formation in the retinal artery occurs spontaneously or in association with hyphema, Moyamoya and acute chest sydrome. There is no associated pain and it may be unilateral or bilateral. http://purl.obolibrary.org/obo/SCDO_0008990 Vertebral Collapse http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System Occurs where there is infarction of vertebral bone marrow, leading to collapse of the vertebrae with a typical 'fish mouth' appearance. It is often asymptomatic, but may cause acute and/or long term pain requiring analgesia and mechanical support such as a brace. Can be an acute or chronic bone problem in SCD. http://purl.obolibrary.org/obo/SCDO_0009089 Non-Maleficience http://purl.obolibrary.org/obo/GSSO_003239 Ethical Principle Principle dictating that harm should not come to individuals as a result of their participation in a research project. http://purl.obolibrary.org/obo/SCDO_0009117 Folate Deficiency http://purl.obolibrary.org/obo/SCDO_1000261 Avitaminosis A nutritional condition produced by a deficiency of folic acid in the diet. http://purl.obolibrary.org/obo/SCDO_0009169 obsolete Sickle Plus Structural Variant http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms A hemoglobinopathy caused by compound heterozygous inheritance of one hemoglobin S allele and one hemoglobin allele that produces structurally abnormal hemoglobin. http://purl.obolibrary.org/obo/SCDO_0009279 Unstable Hemoglobin http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin Hemoglobin with decreased solubility in the red cell due to substitutions in the primary sequence of globin which alters the tertiary or quaternary structure of the molecule and results in a globin polypeptide/hemoglobin tetramer that is unstable and precipitates intracellularly, reducing the red blood cell lifespan. http://purl.obolibrary.org/obo/SCDO_0009350 Splenic Sequestration http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the Spleen An acute condition of intrasplenic pooling of large amounts of blood. http://purl.obolibrary.org/obo/SCDO_0009445 Renal Papillary Necrosis http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. http://purl.obolibrary.org/obo/SCDO_0009488 obsolete Molecule http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'Any single chemical entity that is an electrically neutral entity consisting of more than one atom. Each atom carries a certain number of electrons that orbit around the nucleus.[Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0009532 Beneficence http://purl.obolibrary.org/obo/GSSO_003239 Ethical Principle Effort made to secure the well-being of persons, maximizing possible benefits and minimizing possible harms. http://purl.obolibrary.org/obo/SCDO_0009613 Protein Phenotype http://purl.obolibrary.org/obo/SCDO_0009884 Biochemical Phenotype The physical characteristics and levels of proteins that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment. http://purl.obolibrary.org/obo/SCDO_0009620 deprecated Low Reticulocyte Count http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms An abnormally low number of reticulocytes per unit volume of blood. http://purl.obolibrary.org/obo/SCDO_0009635 deprecated Aplastic Crises http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'The aplastic crisis is temporary cessation of red cell production. This usually affect sickle cell patients, because of the markedly shortened red cell survival time in patients with sickle cell disease, a precipitous drop in hemoglobin occurs in the absence of adequate reticulocytosis. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0009731 Beta Thalassemia Mutation http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation A mutation in the beta-globin gene, HBB, that causes decreased or absent beta-globin synthesis. http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants http://purl.obolibrary.org/obo/SCDO_1000038 SCD Causal Mutation A genetic mutation in the HBB gene that results in absent or decreased hemoglobin subunit beta or an abnormal hemoglobin other than Hb S. http://purl.obolibrary.org/obo/SCDO_0009884 Biochemical Phenotype http://purl.obolibrary.org/obo/SCDO_0007623 Molecular Phenotype The proteins and their post-translational modifications, lipids, carbohydrates and small molecules that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment. http://purl.obolibrary.org/obo/SCDO_0010000 obsolete Other Genotypes http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'Genotypes which are not specific to sickle cell trait.' http://purl.obolibrary.org/obo/SCDO_0300002 Research Ethics http://purl.obolibrary.org/obo/NCIT_C39796 Ethics The moral obligations governing the conduct of research. Used for discussions of research ethics as a general topic. http://purl.obolibrary.org/obo/SCDO_0300003 Publication Formats http://purl.obolibrary.org/obo/SCDO_0006339 Research Specific genre of publication. http://purl.obolibrary.org/obo/SCDO_0300004 Epidemiologic Study Characteristics http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Types and formulations of studies used in epidemiological and clinical research. http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics http://purl.obolibrary.org/obo/SCDO_0006339 Research Elements, types, descriptions and formulations of a research study. http://purl.obolibrary.org/obo/SCDO_0300006 Information Disclosure http://purl.obolibrary.org/obo/SCDO_0002125 Confidentiality Revealing of information, by oral or written communication. http://purl.obolibrary.org/obo/SCDO_0300007 Parental Notification http://purl.obolibrary.org/obo/SCDO_0300006 Information Disclosure Reporting to parents or guardians about care to be provided to a minor (minors). http://purl.obolibrary.org/obo/SCDO_0300008 Mandatory Reporting http://purl.obolibrary.org/obo/SCDO_0300006 Information Disclosure A legal requirement that designated types of information acquired by professionals or institutions in the course of their work be reported to appropriate authorities. http://purl.obolibrary.org/obo/SCDO_0300009 Data Anonymization http://purl.obolibrary.org/obo/SCDO_0002125 Confidentiality Making information permanently non-identifiable that is associated with the identity of specific entities via encryption or other methods. http://purl.obolibrary.org/obo/SCDO_1000000 Acute Phenotype http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An observable characteristic of disease that has a severe and rapid onset of symptoms with short duration. http://purl.obolibrary.org/obo/SCDO_1000001 deprecated Research Subject ID http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms A unique identifier generated either manually or electronically when adding a subject to a study. http://purl.obolibrary.org/obo/SCDO_1000004 Renal Replacement Therapy http://purl.obolibrary.org/obo/SCDO_0001129 Supportive Therapeutics Procedures which temporarily or permanently remedy insufficient cleansing of body fluids by the kidneys. http://purl.obolibrary.org/obo/SCDO_1000007 Hemoglobin D http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin An abnormal hemoglobin caused by various point mutations within the HBB gene. This form of hemoglobin prevents red blood cells from carrying oxygen effectively. There are at least 8 different types of hemoglobin D. http://purl.obolibrary.org/obo/SCDO_1000008 Hemoglobin M http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin A group of abnormal hemoglobins in which amino acid substitutions take place in either the alpha, beta or gamma chains but near the heme iron. This results in facilitated oxidation of the hemoglobin to yield excess methemoglobin which leads to cyanosis. http://purl.obolibrary.org/obo/SCDO_1000009 Hemoglobin E http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations. http://purl.obolibrary.org/obo/SCDO_1000010 Sickle Cell Disease-S/HPFH http://purl.obolibrary.org/obo/SCDO_1000215 Structural and Quantitative Hemoglobinopathy A group of disorders caused by large deletions of the beta-globin gene complex; typically 30% fetal haemoglobin. http://purl.obolibrary.org/obo/SCDO_1000012 Beta-Globin Family Members http://purl.obolibrary.org/obo/SCDO_1000104 Hemoglobin Subunits Members of the beta-globin family. In humans, they are encoded in a gene cluster on chromosome 11. They include hemoglobin subunit epsilon, hemoglobin subunit gamma, hemoglobin subunit delta and hemoglobin subunit beta. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult hemoglobin is comprised of two alpha globin chains and two beta-globin chains. http://purl.obolibrary.org/obo/SCDO_1000013 HBB http://purl.obolibrary.org/obo/SCDO_1000362 Beta-Globin Gene This gene encodes the hemoglobin subunit beta and is located on chromosome 11 mapped at 11p15.5. http://purl.obolibrary.org/obo/SCDO_1000014 HBD http://purl.obolibrary.org/obo/SCDO_1000362 Beta-Globin Gene This gene encodes the hemoglobin subunit delta, which is a component of hemoglobin A2, which plays a role in the transport of oxygen to tissues of the adult body, but exists only in small amounts in all adult humans (1.5-3.1% of all hemoglobin molecules). http://purl.obolibrary.org/obo/SCDO_1000016 Hemoglobin O-Arab http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin An abnormal hemoglobin that results from the substitution of glutamic acid with lysine at position 121 of the beta chain. http://purl.obolibrary.org/obo/SCDO_1000017 Surgery http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics A material processing technique that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury or to help improve bodily function or appearance. http://purl.obolibrary.org/obo/SCDO_1000020 Treatment of Precipitating Factors http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics Treatment of factors associated with the definitive onset of a disease, illness, accident, behavioral response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as necessary. Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc. http://purl.obolibrary.org/obo/SCDO_1000023 obsolete Evidence Code http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'Every annotation must be attributed to a source, which may be a literature reference, another database or a computational analysis. The annotation must indicate what kind of evidence is found in the cited source to support the association between the gene product and the GO term. A simple controlled vocabulary is used to record evidence; and the evidence codes are simply the three-letter codes used to signify the type of evidence cited. [Curator team: Exact []]' http://purl.obolibrary.org/obo/SCDO_1000024 obsolete IEA (inferred from electronic annotation) http://purl.obolibrary.org/obo/SCDO_1000023 obsolete Evidence Code 'Used for annotations that depend directly on computation or automated transfer of annotations from a database, particularly when the analysis is performed internally and not published. A key feature that distinguishes this evidence code from others is that it is not made by a curator; use IEA when no curator has checked the specific annotation to verify its accuracy. [Curator team: Exact []]' http://purl.obolibrary.org/obo/SCDO_1000025 obsolete PCS (published clinical study) http://purl.obolibrary.org/obo/SCDO_1000023 obsolete Evidence Code 'This should be used for information extracted from articles in the medical literature. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000026 obsolete ICE (individual clinical experience) http://purl.obolibrary.org/obo/SCDO_1000023 obsolete Evidence Code 'Can be used for annotations based on individual clinical experience. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000027 obsolete ITM (inferred by text-mining) http://purl.obolibrary.org/obo/SCDO_1000023 obsolete Evidence Code 'Not described [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000028 obsolete TAS (traceable author statement) http://purl.obolibrary.org/obo/SCDO_1000023 obsolete Evidence Code 'Usually reviews or disease entries (e.g. OMIM) that only refers to the original publication. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000029 obsolete NAS (non-traceable author statement) http://purl.obolibrary.org/obo/SCDO_1000023 obsolete Evidence Code 'used in all cases where the author makes a statement that a curator wants to capture but for which there are neither results presented nor a specific reference cited in the source used to make the annotation. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000030 obsolete IC (inferred by curator) http://purl.obolibrary.org/obo/SCDO_1000023 obsolete Evidence Code 'Used for those cases where an annotation is not supported by any direct evidence, but can be reasonably inferred by a curator from other annotations, for which evidence is available. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000031 from personal attribute http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Terms deprecated in the "Personal Attribute" class. http://purl.obolibrary.org/obo/SCDO_1000032 Diagnostic Tool http://purl.obolibrary.org/obo/SCDO_0000379 Diagnostics A diagnostic instrument, technique, laboratory assay or test, or method of patient examination used for differential diagnosis. http://purl.obolibrary.org/obo/SCDO_1000033 Diagnostic Instrument http://purl.obolibrary.org/obo/SCDO_1000032 Diagnostic Tool A research instrument consisting of a series of questions and other prompts for the purpose of gathering information from respondents to assist with differential diagnosis. http://purl.obolibrary.org/obo/SCDO_1000034 from diagnostics http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Terms deprecated in the "Diagnostics" class. http://purl.obolibrary.org/obo/SCDO_1000035 from therapeutics http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Terms deprecated in the "Therapeutics" class. http://purl.obolibrary.org/obo/SCDO_1000036 Hemoglobin C Present http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration When the abnormal hemoglobin, hemoglobin C (HbC), has been detected in a blood sample. http://purl.obolibrary.org/obo/SCDO_1000037 Abnormality of the Cerebral Vasculature http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the Vasculature An abnormality of the cerebral vasculature. http://purl.obolibrary.org/obo/SCDO_1000038 SCD Causal Mutation http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation A mutation wholly or partly responsible for causing a sickle cell disease. http://purl.obolibrary.org/obo/SCDO_1000039 HBB, GLU6VAL http://purl.obolibrary.org/obo/SCDO_1000038 SCD Causal Mutation The glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by valine. http://purl.obolibrary.org/obo/SCDO_1000040 HBB, GLU121LYS http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. This mutation is found as a single alteration in Hemoglobin O-Arab and is one of the two contributing mutations to the production of Hemoglobin S-Oman. http://purl.obolibrary.org/obo/SCDO_1000041 HBB, GLU6LYS http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants A mutation where the glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. This mutation results in the production of Hemoglobin C and confers resistance to malaria. http://purl.obolibrary.org/obo/SCDO_1000042 HBB, GLU26LYS http://purl.obolibrary.org/obo/SCDO_0001765 Beta-Minus Thalassemia Mutation A mutation in the HBB gene causing substitution of glutamic acid for lysine at the 26th position of the beta-globin chain. http://purl.obolibrary.org/obo/SCDO_1000043 Gender Identity http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A person's concept of self as being male and masculine or female and feminine, or ambivalent, based in part on physical characteristics, parental responses, and psychological and social pressures. It is the internal experience of gender role. http://purl.obolibrary.org/obo/SCDO_1000044 HBB, ASP73ASN http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants A mutation where the aspartic acid in position 73 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. This mutation is found as a single alteration in Hemoglobin Korle Bu and is one of the two contributing mutations to the production of Hemoglobin C-Harlem. http://purl.obolibrary.org/obo/SCDO_1000045 HBB, VAL23ILE http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants A mutation where the valine in position 23 in the primary sequence of a beta-chain produced by the HBB gene is replaced by isoleucine. When compounded with the HbS mutation in the same gene, the sickling Hemoglobin S-Antilles is produced. http://purl.obolibrary.org/obo/SCDO_1000046 HBB, THR87ILE http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants A mutation where the threonine in position 87 in the primary sequence of a beta-chain produced by the HBB gene is replaced by isoleucine. This mutation is found as a single alteration in Hemoglobin Quebec-Chori. Compound heterozygosity for Hb Quebec-chori and Hb S results in sickle cell disease. http://purl.obolibrary.org/obo/SCDO_1000047 HBB, LEU68PHE http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants A mutation where the leusine residue in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by phenylalanine. This mutation on its own produces a stable hemoglobin that does not result in hemolysis (Hb Rockford), but when in combination with the Hb S mutation (HBB, GLU6VAL), the symptomatic Hb Jamaica Plain is produced. http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype http://purl.obolibrary.org/obo/SCDO_0004061 Genotype The alleles, or variant forms of the HBB gene, that are carried by an SCD sufferer. http://purl.obolibrary.org/obo/SCDO_1000049 Hemoglobin Genotype SC http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype The genotype when an individual has the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS, however, the anemia is less severe. http://purl.obolibrary.org/obo/SCDO_1000051 Hemoglobin Genotype S/O-Arab http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin O-Arab (HBB GluU121Lys) variants. http://purl.obolibrary.org/obo/SCDO_1000052 Hemoglobin Genotype SE http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin E (HBB Glu26Lys) variants. http://purl.obolibrary.org/obo/SCDO_1000053 Hemoglobin Genotype SS http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype The homozygous genotype that involves a substitution of glutamic acid for a valine at position 6 of beta-globin chains produced by both beta-globin gene (HBB) alleles. http://purl.obolibrary.org/obo/SCDO_1000054 Hemoglobin Genotype SD http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype Compound heterozygous inheritance of Hb S and Hb D mutations. Hb S occurs from substitution of valine for glutamic acid in the beta-6 position (beta6Glu>Val). Hb D generally results from substitution of glutamic acid for glutamine at beta-121 (beta121Glu>Gln); such as the Hb D-Punjab/Hb D-Los Angeles variants. There are several other Hb D variants, including Hb D-Iband where threonine is substituted by lysine at beta-87 (beta87Thr>Lys) and Hb D-Iran where glutamic acid is substituted by glutamine at beta-22 (beta22Glu>Gln). http://purl.obolibrary.org/obo/SCDO_1000056 Hemoglobin Genotype S/C-Harlem http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype Compound heterozygous inheritance of Hb S and Hb C-Harlem mutations. Hb S occurs from substitution of valine for glutamic acid in the beta-6 position (beta6Glu>Val). Hb C-Harlem involves two substitutions in each beta-chain: the first being identical to that found in Hb S, and the second being a substitution of aspartic acid at position 73 by asparagine (beta73Asp>Asn). http://purl.obolibrary.org/obo/SCDO_1000058 Hemoglobin C-Harlem http://purl.obolibrary.org/obo/SCDO_1000082 Sickling Hemoglobin with Two Beta-Globin Gene Substitutions An abnormal hemoglobin in which two mutations occur in its beta-chains results in the sickling of red blood cells containing this hemoglobin. The sickling is the result of the mutation in which glutamic acid in position 6 is replaced by valine, which is not counteracted by the second mutation, in which the aspartic acid in position 73 is replaced by asparagine. http://purl.obolibrary.org/obo/SCDO_1000059 Hemoglobin D-Punjab Trait http://purl.obolibrary.org/obo/SCDO_0000525 Hemoglobin D Trait The inheritance of the gene for hemoglobin D-Punjab from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent. http://purl.obolibrary.org/obo/SCDO_1000060 SCD Molecular Phenotype http://purl.obolibrary.org/obo/SCDO_0007623 Molecular Phenotype The underlying molecular makeup resulting in sickle cell disease. http://purl.obolibrary.org/obo/SCDO_1000061 Altered Level of Normal Hemoglobin in SCD http://purl.obolibrary.org/obo/SCDO_1000276 Abnormal Hemoglobin Level in SCD An altered level of normal hemoglobin (Hemoglobin A (Hb A), Hemoglobin A2 (Hb A2) or Hemoglobin F (Hb F, fetal hemoglobin) in the blood, which may be seen in those suffering with Sickle Cell Disease (SCD). http://purl.obolibrary.org/obo/SCDO_1000062 Sickle Cell Disease-S/C-Harlem http://purl.obolibrary.org/obo/SCDO_1000163 Compound Heterozygous Sickle Cell Disease A rare type of sickle cell disease with the compound heterozygous genotype involving the mutations for Hemoglobin S and Hemoglobin C-Harlem. This condition is described to have a clinical course similar to sickle cell anemia. http://purl.obolibrary.org/obo/SCDO_1000063 HBB, 106-KB DEL http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants A 106-kb deletion of the beta globin gene cluster. http://purl.obolibrary.org/obo/SCDO_1000064 Tiered Consent http://purl.obolibrary.org/obo/NCIT_C25460 Consent A consent model in which participants are given a set of options allowing them to select how they want to participate in the research. http://purl.obolibrary.org/obo/SCDO_1000065 Specific Consent http://purl.obolibrary.org/obo/SCDO_0007087 Informed Consent Requires that consent to the use of human samples be specific to the 'purpose' for which the sample is to be used and that where previously collected samples are to be used for a different 'research purpose' further consent should generally be obtained. http://purl.obolibrary.org/obo/SCDO_1000066 Hemoglobin F Test http://purl.obolibrary.org/obo/SCDO_0000522 Hemoglobin Variant Test The determination of the amount of hemoglobin F present in a sample. http://purl.obolibrary.org/obo/SCDO_1000068 deprecated Severe S/Beta-Plus-Thal http://purl.obolibrary.org/obo/SCDO_1000091 deprecated Sickle beta plus thalassemia 'Genotype where a person is a compound heterozygote for the hemoglobin S mutation and a severe beta plus thalassemia mutation. Source: CLAIR [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000069 Hemoglobin Genotype S/HPFH http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype Genotype whereby a person is heterozygous for a hemoglobin S mutation and heterozygous for a mutation that causes persistant fetal hemoglobin production into adulthood. HPFH causative mutations are largely due to deletions in the beta-globin locus, but also by point mutations in the gamma-globin gene promoters. http://purl.obolibrary.org/obo/SCDO_1000070 Hemoglobin Genotype S/Lepore Boston http://purl.obolibrary.org/obo/SCDO_1000107 Hemoglobin Genotype S/Beta Thalassemia A compound heterozygous genotype, involving the mutations for Hemoglobin S (beta6Glu>Val) and Hemoglobin Lepore Boston. http://purl.obolibrary.org/obo/SCDO_1000071 Hemoglobin Genotype A/Jamaica Plain http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype A genotype that involves a double mutation in one beta-globin gene that results in hemoglobin with low oxygen affinity, which results in the polymerisation of the hemoglobin variant (hemoglobin Jamaica Plain) and thus sickling of erythorcytes. http://purl.obolibrary.org/obo/SCDO_1000072 Hemoglobin Jamaica Plain http://purl.obolibrary.org/obo/SCDO_1000082 Sickling Hemoglobin with Two Beta-Globin Gene Substitutions A sickling hemoglobin with reduced oxygen affinity that causes severe hemolytic anemia and sickling of erythrocytes. http://purl.obolibrary.org/obo/SCDO_1000073 Hemoglobin S-Antilles http://purl.obolibrary.org/obo/SCDO_1000082 Sickling Hemoglobin with Two Beta-Globin Gene Substitutions A form of hemoglobin caused by two mutations in its beta-chains, the classic beta S mutation (beta 6 Glu>Val) and beta 23 Val>Ile. Hemoglobin S-Antilles has the same electrophoretic mobility as Hemoglobin S but a distinct isoelectric focus and produces sickling in the carriers of the Hb A/S Antilles trait. http://purl.obolibrary.org/obo/SCDO_1000074 Hemoglobin S-Oman http://purl.obolibrary.org/obo/SCDO_1000082 Sickling Hemoglobin with Two Beta-Globin Gene Substitutions A form of hemoglobin caused by two mutations in a beta-globin chain, the classic beta S mutation (beta6 Glu> Val) and a beta121 Glu > Lys mutation identical to that of Hb-O Arab. The hemoglobin variant has reduced solubility and there is an apparent increase in red cell sickling tendency. It is reported to cause a rare dominant form of sickle cell disease, Sickle Cell Disease A/S-Oman. http://purl.obolibrary.org/obo/SCDO_1000075 Hemoglobin Genotype A/S-Oman http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype Dominant heterozygosity for the double HBB Glu6Val and Glu121Lys mutation. http://purl.obolibrary.org/obo/SCDO_1000076 Mild Sickle Cell Disease-S Beta Minus Thalassemia http://purl.obolibrary.org/obo/SCDO_0001056 Sickle Cell Disease-S Beta Minus Thalassemia A form of sickle cell thalassemia, with a mild clinical phenotype, characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells. http://purl.obolibrary.org/obo/SCDO_1000077 Moderate Sickle Cell Disease-S Beta Minus Thalassemia http://purl.obolibrary.org/obo/SCDO_0001056 Sickle Cell Disease-S Beta Minus Thalassemia A form of sickle cell thalassemia, with a moderate clinical phenotype, characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells. http://purl.obolibrary.org/obo/SCDO_1000078 Severe Sickle Cell Disease-S Beta Minus Thalassemia http://purl.obolibrary.org/obo/SCDO_0001056 Sickle Cell Disease-S Beta Minus Thalassemia A form of sickle cell thalassemia, with a severe clinical phenotype, characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells. http://purl.obolibrary.org/obo/SCDO_1000079 deprecated Moderate S/Beta-Plus-Thal http://purl.obolibrary.org/obo/SCDO_1000091 deprecated Sickle beta plus thalassemia 'Genotype where a person is a compound heterozygote for the hemoglobin S mutation and a moderate beta plus thalassemia mutation. Source: CLAIR [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000080 deprecated Mild S/Beta-Plus-Thal http://purl.obolibrary.org/obo/SCDO_1000091 deprecated Sickle beta plus thalassemia 'Not described [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000081 Hemoglobin Genotype C/S Antilles http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype Compound heterozygosity for the hemoglobin C (HBB Glu6Lys) mutation and the double HBB Glu6Val, Val23Ile mutation of hemoglobin S-Antilles. http://purl.obolibrary.org/obo/SCDO_1000082 Sickling Hemoglobin with Two Beta-Globin Gene Substitutions http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin A hemoglobin that sickles due to the presence of two beta-globin gene mutations within the same HBB gene. http://purl.obolibrary.org/obo/SCDO_1000083 Hemoglobin S-South End http://purl.obolibrary.org/obo/SCDO_1000082 Sickling Hemoglobin with Two Beta-Globin Gene Substitutions An abnormal hemoglobin in which two mutations occurring in its beta-chains results in the sickling of red blood cells containing this hemoglobin. The sickling is the result of the mutation in which glutamic acid in position 6 is replaced by valine, which is not counteracted by the second mutation, in which the lysine in position 132 is replaced by asparagine. http://purl.obolibrary.org/obo/SCDO_1000084 Hemoglobin Genotype S/Quebec-Chori http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype A compound heterozygous genotype, involving the mutations for Hemoglobin S and Hemoglobin Quebec Chori, which shows an electrophoretic pattern similar to that of the Hb A/S Genotype, but shows sickling. http://purl.obolibrary.org/obo/SCDO_1000085 Hemoglobin Quebec Chori http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin An abnormal hemoglobin in which a threonine is replaced by an isoleucine residue at the eighty-seventh position of beta chains. It migrates like HbA but promotes sickling. http://purl.obolibrary.org/obo/SCDO_1000086 Sickle Cell Disease-S/Quebec Chori http://purl.obolibrary.org/obo/SCDO_1000163 Compound Heterozygous Sickle Cell Disease A severe compound heterozygous sickling disorder characterized by the presence of both hemoglobin S and hemoglobin Quebec Chori. http://purl.obolibrary.org/obo/SCDO_1000087 HBB, LYS132ASN http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants A mutation where the lysine residue in position 132 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. This mutation on its own produces Hb Yamagata which has reduced oxygen affinity, but no distinctive clinical abnormalities. However, when present in the same gene as the Hb S mutation (HBB, GLU6VAL), the sickling HbS-South End is produced. http://purl.obolibrary.org/obo/SCDO_1000088 Hemoglobin Genotype S/S-South End http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype A compound heterozygous genotype, involving the mutations for hemoglobin S and hemoglobin S-South End. http://purl.obolibrary.org/obo/SCDO_1000089 Hemoglobin Lepore Boston http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin The most common Hemoglobin Lepore type and the only type of the three known variants described in association with HbS. This abnormal hemoglobin consists of two normal alpha globin chains (HBA) and two deltabeta globin fusion chains which occur due to a crossover between the delta (HBD) and beta globin (HBB) gene loci during meiosis. http://purl.obolibrary.org/obo/SCDO_1000090 Sickle Cell Disease-S/S-South End http://purl.obolibrary.org/obo/SCDO_1000163 Compound Heterozygous Sickle Cell Disease A rare, reported severe, type of sickle cell disease with the compound heterozygous genotype involving the mutations for Hemoglobin S and Hemoglobin S-South End. http://purl.obolibrary.org/obo/SCDO_1000091 deprecated Sickle beta plus thalassemia http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms 'Sb+ thalassemia is an inherited condition. Hemoglobin S comes from one parent and Beta plus thalassemia comes from the other parent. Instead of appearing round (like donuts), red blood cells are somewhat small, pale and misshapen. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_1000092 deprecated-Acute Severe Headache http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis. http://purl.obolibrary.org/obo/SCDO_1000093 Adverse Event (AE) http://purl.obolibrary.org/obo/SCDO_0000391 Disease Modifier A medically undesirable event occurring in a research subject, such as an abnormal sign, symptom, worsening of a disease, injury, etc. A serious adverse event (SAE) results in death, hospitalization (or increased hospital stay), persistent disability, birth defect, or any other outcome that seriously jeopardizes the subject's health. http://purl.obolibrary.org/obo/SCDO_1000094 Research Benefit http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics A desirable research outcome or state of affairs, such as medical treatment, clinically useful information, or self-esteem. In the oversight of human subjects research, money is usually not treated as a benefit. http://purl.obolibrary.org/obo/SCDO_1000095 Conflict of Interest http://purl.obolibrary.org/obo/SCDO_1000430 Ethics Related Concept A situation in which an individual or their close associates might benefit personally from official or professional actions. It includes a conflict between a person's private interests and official responsibilities in a position of trust.The concept refers both to actual conflict of interest and the appearance or perception of conflict. http://purl.obolibrary.org/obo/SCDO_1000097 Human Subject http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics An homo sapiens that bears an experimental subject role which is realized through his/her participation in a scientific technique as the subject of interest (ie as the subject about which data is generated in an assay or study, or the entity that is transformed or modified in a material processing technique). http://purl.obolibrary.org/obo/SCDO_1000098 Case Report Form (CRF) http://purl.obolibrary.org/obo/SCDO_0300003 Publication Formats A paper or electronic questionnaire specifically used in research by the sponsor of the research to collect data from each research participant. All data on each participant in the study are held and/or documented in the CRF, including adverse events. http://purl.obolibrary.org/obo/SCDO_1000099 Modifier Gene http://purl.obolibrary.org/obo/SCDO_0000444 Genetic Disease Modifier Genes with alleles that affect the phenotype associated with a nonallelic gene. http://purl.obolibrary.org/obo/SCDO_1000100 ICD-10-CM Code Type http://purl.obolibrary.org/obo/SCDO_0000245 Clinical Coding The type of ICD-10-CM code, in terms of a code's usability for reimbursement purposes. http://purl.obolibrary.org/obo/SCDO_1000103 Genetic Locus http://purl.obolibrary.org/obo/SCDO_0005722 Genetic Structure A specific region that is mapped within a genome. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or hereditary disease. http://purl.obolibrary.org/obo/SCDO_1000104 Hemoglobin Subunits http://purl.obolibrary.org/obo/NCIT_C26548 Gene Product The protein subunits that comprise multimeric hemoglobins. http://purl.obolibrary.org/obo/SCDO_1000105 Alpha-Globin Family Members http://purl.obolibrary.org/obo/SCDO_1000104 Hemoglobin Subunits Members of the alpha-globin family. In humans, they are encoded in a gene cluster on chromosome 16. They include hemoglobin subunit zeta and hemoglobin subunit alpha. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult hemoglobin is comprised of 2 alpha-globin chains and 2 beta-globin chains. http://purl.obolibrary.org/obo/SCDO_1000106 Sickle Cell Disease http://purl.obolibrary.org/obo/SCDO_0000552 Hemoglobinopathy Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or compound heterozygosity for the sickle gene and either another mutation for a different hemoglobin variant or one of numerous beta-thalassemia mutations. http://purl.obolibrary.org/obo/SCDO_1000107 Hemoglobin Genotype S/Beta Thalassemia http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype The combination of the hemoglobin S mutation (beta6Glu>Val) and a beta-thalassemia mutation. http://purl.obolibrary.org/obo/SCDO_1000108 HBB, SER9TYR http://purl.obolibrary.org/obo/SCDO_0002305 Hemoglobin D Disease Causal Mutation A mutation where the serine in position 9 in the primary sequence of a beta-chain produced by the HBB gene is replaced by tyrosine. This mutation is one of 2 amino acid substitutions in the same beta chain that produces the asymptomatic Hemoglobin D-Agri, the other mutation being HBB, GLU121GLN, which on its own produces Hemoglobin D-Punjab. http://purl.obolibrary.org/obo/SCDO_1000109 HBB, GLU121GLN http://purl.obolibrary.org/obo/SCDO_0009786 Other HBB Variants A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by glutamine. http://purl.obolibrary.org/obo/SCDO_1000110 HBB, GLY16ARG http://purl.obolibrary.org/obo/SCDO_0002305 Hemoglobin D Disease Causal Mutation A mutation where the glycine in position 16 in the primary sequence of a beta-chain produced by the HBB gene is replaced by arginine. http://purl.obolibrary.org/obo/SCDO_1000111 HBB, ASN19LYS http://purl.obolibrary.org/obo/SCDO_0002305 Hemoglobin D Disease Causal Mutation A mutation where the asparargine acid in position 19 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. http://purl.obolibrary.org/obo/SCDO_1000112 HBB, GLU22GLN http://purl.obolibrary.org/obo/SCDO_0002305 Hemoglobin D Disease Causal Mutation A mutation where the glutamic acid in position 22 in the primary sequence of a beta-chain produced by the HBB gene is replaced by glutamine. http://purl.obolibrary.org/obo/SCDO_1000115 HBB, GLU121ALA http://purl.obolibrary.org/obo/SCDO_0002305 Hemoglobin D Disease Causal Mutation A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by alanine. http://purl.obolibrary.org/obo/SCDO_1000116 Adja http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Adja ethnic group are mostly farmers and live in the southern part of Benin Republic. They make up 15% of the general country population. This group of people migrated into Benin between the 12th and 13th centuries from River Mono. The primary language is Aja-Gbe with a majority of the people being trilingual. http://purl.obolibrary.org/obo/SCDO_1000117 Bariba http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Bariba is the ethnic group dominating the northern side of Benin, who constitute 9% of the population. They are the first inhabitants of Benin and are concentrated in the capital city, Nikki. One of their leading practices is horse riding, which is a practice that has been enjoyed from generation to generation. With agriculture being their dominant occupation, Bariba people have a diverse range of produce such as corn, rice and palm oil. http://purl.obolibrary.org/obo/SCDO_1000119 Fon http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The largest ethnic group in Benin is Fon/Dahomey which constitutes 39% of the total population. Established in 1600 by the Fon, a group that came about through the intermarriage between the Adja and local Gedevi. http://purl.obolibrary.org/obo/SCDO_1000122 Embu http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Embu are a Bantu-speaking people who are closely related to the Gikuyu of Ndia and Gicugu to the west, the Mbeere and the Kamba to the southeast, and the Chuka and the Meru to the north in Kenya. http://purl.obolibrary.org/obo/SCDO_1000123 Kalenjin http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Kalenjin ethnic group are one of the five largest ethnic groups in Kenya. They are a Nilotic ethnic group and they are mainly farmers. http://purl.obolibrary.org/obo/SCDO_1000124 Kamba http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Kamba ethnic group, also known as Akamba is one of the five largest ethnic groups in Kenya. They are Bantu-speaking people and primarily agriculturists. http://purl.obolibrary.org/obo/SCDO_1000125 Kikuyu http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Kikuyu are the largest single ethnic tribe in Kenya, making up 22% of the country's population. It is believed that the Kikuyu people migrated from Lake Chad to East Africa in 1000 AD, settling in the fertile central highlands of Kenya and engaging in farming. http://purl.obolibrary.org/obo/SCDO_1000126 Kisii http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Kisii tribe (also known as the Gusii tribe) is a Bantu ethnic group who occupy the Kisii highlands in Nyanza, Western Kenya. The Kisiis constitute the sixth largest ethnic group, comprising about seven percent of the national population. Kisii, which is their ethnic language, is also traditionally known as Ekegusii. http://purl.obolibrary.org/obo/SCDO_1000127 Luhya http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Luhya ethnic group, also known as the Abaluhya, Baluhya, or Abaluyia, is a Bantu tribe living in Kenya's agriculturally fertile western region. They are the second largest tribe in Kenya and neighbors to some of the Nilotic tribes, including the Luo, Kalenjin, Maasai and Teso (Iteso). http://purl.obolibrary.org/obo/SCDO_1000128 Luo http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Luo, also called Joluo or Kavirondo constitute the fourth largest ethnic group in Kenya. The Luo speak a Nilotic language of the Nilo-Saharan language family. http://purl.obolibrary.org/obo/SCDO_1000129 Maasai http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A smaller ethnic group, accounting for only about 0.7 percent of Kenya's population, with a similar number living in Tanzania. Maasais speak Maa, a Nilotic ethnic language from their origin in the Nile region of North Africa. http://purl.obolibrary.org/obo/SCDO_1000131 Yoruba http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Yoruba is an ethnic group coming from Nigeria and well settled along the eastern boundary of Benin. They are more than 18% of the population. The majority of the Yoruba people in Benin are descendants of the Ife tribe, and the Yoruba people are predominantly of the Muslim religion. http://purl.obolibrary.org/obo/SCDO_1000132 Meru http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Meru tribe or Merus is a Bantu ethnic group. They reside on Mount Kenya's agriculturally rich northeastern slopes, in Kenya's Eastern Province. The name Meru refers to both the people and the location. Merus are primarily agrarian, raising a few domestic animals. http://purl.obolibrary.org/obo/SCDO_1000133 Mijikenda/Swahili http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Mijikenda tribe is a Kenyan coastal Bantu tribe that consists of nine closely related sub-tribes. "Mijikenda" literally means nine homes or nine homesteads (in Swahili), referring to the common ancestry of the Mijikenda people. The nine Mijikenda sub-tribes are believed to be nine different homes of the same tribe. Each sub-tribe speaks its own dialect of the Mijikenda language. http://purl.obolibrary.org/obo/SCDO_1000134 Somali http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A Cushitic speaking people comprising a small minority of Kenya's population. The Somali tend large herds of cattle, goats, sheep, and camels in the dry, arid lands of Northern Kenya. They are politically well organized and are united by both family allegiances and political treaties. The Somali also produce exquisitely carved headrests and woven artifacts. http://purl.obolibrary.org/obo/SCDO_1000135 Taita/Taveta http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Taita people are a Bantu tribe living in the Taita Hills on Kenya's southwest, near the Tanzania border and surrounding plains. Taita tribe actually consists of three separate but closely-related tribes: Wadawida (or Taita), Wasaghala (Sagalla) and Wataveta (Taveta). http://purl.obolibrary.org/obo/SCDO_1000136 Borana http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Borana are a branch of the populous Oromo people found in southern Ethiopia and northern Kenya. http://purl.obolibrary.org/obo/SCDO_1000137 Maragoli http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group It is the second largest sub-tribe of the Luhya ethnic group in Kenya. http://purl.obolibrary.org/obo/SCDO_1000138 Pokot http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Pokot are a Kalenjin-speaking people whose language incorporates words from the neighboring Karamojong and Turkana. The Pokot live in an ecologically complex region that extends from the plains of eastern Uganda across the highlands of northwestern Kenya to the plains of Lake Baringo. http://purl.obolibrary.org/obo/SCDO_1000139 Turkana http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group The Turkana tribe is a nomadic pastoralist people that inhabit the Turkana district in Kenya's Rift Valley Province. Turkana tribe is part of the Nilotic tribes and constitutes the second largest pastoralist community in Kenya after the Maasais. They speak the Turkana language, which is Nilotic and similar to the Maasai language. http://purl.obolibrary.org/obo/SCDO_1000141 Bassa http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Bassa is a Niger-Congo Kru language. Historians have traced the Bassa's origins back to Egypt nearly six thousand years ago. Due to their migration from Egypt to other parts of Africa, the Bassa in Liberia share a similar history with Bassa groups in other parts of the continent such as Nigeria (Bassa Nge), The Democratic Republic of the Congo (Bassaa la Mpasu), Togo (Basa'r), Senegal (Bassa-Ri), and Cameroon (Basaa Mpoo). http://purl.obolibrary.org/obo/SCDO_1000142 Spectrophotometry http://purl.obolibrary.org/obo/SCDO_0000896 Physical Detection Method Spectrophotometry involves the use of a spectrophotometer to measure the amount of light that a sample absorbs. The instrument operates by passing a beam of light through a sample and measuring the intensity of light reaching a detector. http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline http://purl.obolibrary.org/obo/SCDO_1000160 Guideline A recommendation on the appropriate treatment and care of people with a specific disease or condition, based on the best available evidence, designed to help healthcare professionals in their work. http://purl.obolibrary.org/obo/SCDO_1000144 Recommendations for the Management of Sickle Cell Disease in South Africa http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline Management protocols for the purposes of consistency and standardisation, which could also facilitate sharing of resources between centers for maximal utility. These recommendations have been developed for the South African setting, and it is intended to update them regularly to meet new demands and challenges. http://purl.obolibrary.org/obo/SCDO_1000145 National Guideline for the Control and Management of Sickle Cell Disease http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline Guidelines for the management of specific clinical problems and protocols for various therapeutic procedures for patients with sickle cell disease and thalassaemia; to facilitate uniformity and standardization of care across different disciplines. http://purl.obolibrary.org/obo/SCDO_1000146 Management of Sickle Cell Disease - The United Republic of Tanzania http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline Guidelines for health care professionals for management of sickle cell disease in patients in the Tanzanian context. http://purl.obolibrary.org/obo/SCDO_1000147 A Parental Guide to Managing Sickle Cell Disease http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline A booklet with information and standard guidelines to help parents learn about sickle cell disease and how to take care of their children with sickle cell disease. http://purl.obolibrary.org/obo/SCDO_1000148 Standards for Clinical Care of Adults with Sickle Cell Disease in the UK http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline A document that includes standards and guidelines for clinical care and recommendations for how care for adults with sickle cell disease should be delivered. http://purl.obolibrary.org/obo/SCDO_1000149 Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline The second edition of the Clinical Care Guidelines of the Sickle Cell Unit, containing revised and expanded guidelines for the management of sickle cell disease. It outlines a standard of care that is informed by best practice, taking into account resource limitations locally and regionally. It also contains patient information leaflets. http://purl.obolibrary.org/obo/SCDO_1000150 Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline Standard of care guidelines that promote excellence in sickle cell care, and that lead to improved patient experiences around care and treatment. http://purl.obolibrary.org/obo/SCDO_1000151 Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline A document that include standards and guidelines for clinical care and recommendations for how care for children with sickle cell disease should be delivered. http://purl.obolibrary.org/obo/SCDO_1000152 Evidence-Based Management of Sickle Cell Disease http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline Guidelines providing the best science-based recommendations to guide practice decisions for primary care providers and other clinicians, nurses, and staff who provide emergency or continuity care to individuals with sickle cell disease (SCD). They assist health care professionals in the management of common issues, including routine health maintenance, the recognition and treatment of common acute and chronic complications and comorbidities of SCD, as well as the indications for and monitoring of hydroxyurea and blood transfusion therapy. The guidelines address the care of infants, children, adolescents, and adults with SCD, with the goal of facilitating high-quality and appropriate care for all individuals with this disease. http://purl.obolibrary.org/obo/SCDO_1000153 Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline A review of service delivery across Europe to children with sickle cell disease (SCD), reporting on the available minimum standards of care and future perspectives. http://purl.obolibrary.org/obo/SCDO_1000154 ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline A document that describes various ways in which sickle cell disease can be managed and its complications can be prevented in children. http://purl.obolibrary.org/obo/SCDO_1000155 Family Study http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring. http://purl.obolibrary.org/obo/SCDO_1000158 Crystallised Hemoglobin http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin Hemoglobin that has undergone conformational changes resulting in increased hydrophobicity that results in the formation of solid crystals consisting of hemoglobin particles. http://purl.obolibrary.org/obo/SCDO_1000159 Hemoglobin Genotype S/Beta Minus Thalassaemia http://purl.obolibrary.org/obo/SCDO_1000107 Hemoglobin Genotype S/Beta Thalassemia When one beta-globin gene carries the hemoglobin S mutation (beta6Glu>Val) whereas the other carries a mutation that reduces the amount of beta-globin chain synthesised. http://purl.obolibrary.org/obo/SCDO_1000160 Guideline http://purl.obolibrary.org/obo/SCDO_0001000 SCDO Work consisting of a set of statements, directions, or principles presenting current or future rules or policy. Guidelines may be developed by government agencies at any level, institutions, organizations such as professional societies or governing boards, or by the convening of expert panels. The text may be cursive or in outline form, but it is generally a comprehensive guide to problems and approaches in any discipline or activity. This concept relates to the general conduct and administration of health care activities rather than to specific decisions for a particular clinical condition. http://purl.obolibrary.org/obo/SCDO_1000161 Hemoglobin Genotype AS http://purl.obolibrary.org/obo/SCDO_1000048 SCD Genotype A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains of hemoglobin S. Individuals with this genotype are known to be carriers of the sickle cell trait. http://purl.obolibrary.org/obo/SCDO_1000162 deprecated-Symptomatic Sickle Cell Trait http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms The condition in which an individual with sickle cell trait shows symptoms of sickle cell disease such as anemia or acute chest syndrome. http://purl.obolibrary.org/obo/SCDO_1000163 Compound Heterozygous Sickle Cell Disease http://purl.obolibrary.org/obo/SCDO_0001051 Variant Sickle Cell Syndrome A hemoglobinopathy in which the sickle mutation (HBB, Glu6Val) is inherited in combination with another beta-globin gene mutation, other thanHBB, Glu6Val. http://purl.obolibrary.org/obo/SCDO_1000164 Sickle Cell Disease A/Jamaica Plain http://purl.obolibrary.org/obo/SCDO_1000211 Dominant Sickle Cell Disease Sickle cell disease caused by two mutations in the same beta globin allele, specifically the sickle cell mutation beta6 Glu > Val and a second beta68 Leu > Phe mutation.The other beta globin allele produces normal beta globin chains. http://purl.obolibrary.org/obo/SCDO_1000165 Sickle Cell Disease A/S-Oman http://purl.obolibrary.org/obo/SCDO_1000211 Dominant Sickle Cell Disease Sickle cell disease caused by two mutations in the same beta globin allele, specifically the sickle cell mutation (beta6 Glu > Val) and the hemoglobin O-Arab mutation (beta121 Glu > Lys). The other beta globin allele produces normal beta globin chains. http://purl.obolibrary.org/obo/SCDO_1000166 Sickle Cell Disease C/S Antilles http://purl.obolibrary.org/obo/SCDO_1000211 Dominant Sickle Cell Disease Sickle cell disease caused by two mutations in the same beta globin allele, specifically the sickle cell mutation beta6 Glu > Val and a second beta 23 Val>Ile mutation. The other beta globin allele produces normal beta globin chains. http://purl.obolibrary.org/obo/SCDO_1000170 Diagnosis Guideline http://purl.obolibrary.org/obo/SCDO_1000160 Guideline A directive information entity that specifies how to establish a diagnosis based on clinical findings. http://purl.obolibrary.org/obo/SCDO_1000173 Billable ICD-10-CM Code http://purl.obolibrary.org/obo/SCDO_1000100 ICD-10-CM Code Type An ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes as there are no codes with a greater level of specificity under each code. http://purl.obolibrary.org/obo/SCDO_1000174 Non-Billable ICD-10-CM Code http://purl.obolibrary.org/obo/SCDO_1000100 ICD-10-CM Code Type An ICD-10-CM diagnosis code that is not billable as there are more specific codes below it that contain a greater level of detail. http://purl.obolibrary.org/obo/SCDO_1000177 N48.32 Priapism due to disease classified elsewhere http://purl.obolibrary.org/obo/SCDO_0000607 ICD-10-CM Diagnosis Codes - http://purl.obolibrary.org/obo/SCDO_1000178 SickleInAfrica Extended Demographics Data Element http://purl.obolibrary.org/obo/SCDO_1000508 SickleInAfrica Data Element A data element in the SickleInAfrica Extended Demographics data capture instrument. http://purl.obolibrary.org/obo/SCDO_1000179 Absent Hemoglobin E http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration A lack of production of hemoglobin E. http://purl.obolibrary.org/obo/SCDO_1000181 Hemoglobin E Present http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration When the abnormal hemoglobin, hemoglobin E (HbE), has been detected in a blood sample. http://purl.obolibrary.org/obo/SCDO_1000187 Normal Hemoglobin A2 Level http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration When the level of hemoglobin A2 detected in a sample of blood falls in the normal range for HbA2. http://purl.obolibrary.org/obo/SCDO_1000197 HIV Combination Test http://purl.obolibrary.org/obo/SCDO_0000571 HIV Test A test to detect both HIV antibodies and HIV antigens (a part of the virus) in blood. http://purl.obolibrary.org/obo/SCDO_1000198 HIV Nucleic Acid Test http://purl.obolibrary.org/obo/SCDO_0000571 HIV Test A test to detect HIV in a person's blood. http://purl.obolibrary.org/obo/SCDO_1000201 High Level Albuminuria http://purl.obolibrary.org/obo/SCDO_0000037 Albuminuria An abnormal albumin excretion rate of more than 300 mg/g urine creatinine. http://purl.obolibrary.org/obo/SCDO_1000205 Hemoglobin C-Harlem Disease http://purl.obolibrary.org/obo/SCDO_0008262 Structural Hemoglobinopathy A clinically severe form of sickle cell disease resulting when a person is homozygous for Hemoglobin C-Harlem. http://purl.obolibrary.org/obo/SCDO_1000206 Genetic Recombination http://purl.obolibrary.org/obo/SCDO_0001369 Genetic Variation Production of new arrangements of DNA by various mechanisms such as assortment and segregation, crossing over; gene conversion; genetic transformation; genetic conjugation; genetic transduction; or mixed infection of viruses. http://purl.obolibrary.org/obo/SCDO_1000207 Homologous Recombination http://purl.obolibrary.org/obo/SCDO_1000206 Genetic Recombination An exchange of DNA between matching or similar sequences. http://purl.obolibrary.org/obo/SCDO_1000208 Genetic Crossing Over http://purl.obolibrary.org/obo/SCDO_1000207 Homologous Recombination The reciprocal exchange of segments at corresponding positions along pairs of homologous chromosomes by symmetrical breakage and crosswise rejoining forming cross-over sites (Holliday junctions) that are resolved during chromosome segregation. Crossing-over typically occurs during meiosis but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes. http://purl.obolibrary.org/obo/SCDO_1000209 Crossover between delta (HBD) and beta globin (HBB) gene loci http://purl.obolibrary.org/obo/SCDO_1000208 Genetic Crossing Over The homologous recombination event that occurs during meiosis and results in the delta beta globin fusion chains that replace hemoglobin subunit beta chains in the abnormal hemoglobin, Hemoglobin Lepore. http://purl.obolibrary.org/obo/SCDO_1000211 Dominant Sickle Cell Disease http://purl.obolibrary.org/obo/NCIT_C95534 Hemoglobin Trait Clinical sickle cell disease in the heterozygous state due to an additional mutation on the same allele as the beta S mutation. http://purl.obolibrary.org/obo/SCDO_1000215 Structural and Quantitative Hemoglobinopathy http://purl.obolibrary.org/obo/SCDO_0000552 Hemoglobinopathy A hemoglobinopathy involving the presence of structurally abnormal hemoglobins and defects in the quantity of hemoglobins synthesised. http://purl.obolibrary.org/obo/SCDO_1000221 Alpha Thalassemia Silent Genotype http://purl.obolibrary.org/obo/EUPATH_0000034 Alpha Thalassemia Genotype A genotype whereby one of the four alpha-globin genes is faulty, either as a result of a single nucleotide variant (SNP) or of a deletion. http://purl.obolibrary.org/obo/SCDO_1000224 Easy Bruisability http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the Vasculature Increased susceptibility to bruising. http://purl.obolibrary.org/obo/SCDO_1000225 Hemoglobin Genotype AC http://purl.obolibrary.org/obo/SCDO_0004061 Genotype A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains for hemoglobin C. Individuals with this genotype are known to be carriers of the hemoglobin C trait. http://purl.obolibrary.org/obo/SCDO_1000226 Hemoglobin Genotype AD http://purl.obolibrary.org/obo/SCDO_0004061 Genotype A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains for hemoglobin D. Individuals with this genotype are known to be carriers of the hemoglobin D trait. http://purl.obolibrary.org/obo/SCDO_1000227 Hemoglobin Genotype AE http://purl.obolibrary.org/obo/SCDO_0004061 Genotype A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains for hemoglobin E. Individuals with this genotype are known to be carriers of the hemoglobin E trait. http://purl.obolibrary.org/obo/SCDO_1000229 Hemoglobin Genotype EE http://purl.obolibrary.org/obo/SCDO_0004061 Genotype The homozygous genotype that involves a substitution of glutamic acid for a lysine at position 26 of beta-globin chains (hemoglobin E mutation) produced by both beta-globin gene (HBB) alleles. http://purl.obolibrary.org/obo/SCDO_1000230 Hemoglobin Genotype DD http://purl.obolibrary.org/obo/SCDO_0004061 Genotype The homozygous genotype that involves a hemoglobin D mutation in both beta-globin gene (HBB) alleles. http://purl.obolibrary.org/obo/SCDO_1000231 Hemoglobin Genotype O-Arab http://purl.obolibrary.org/obo/SCDO_0004061 Genotype The homozygous genotype that involves a substitution of glutamic acid for a lysine at position 121 of beta-globin chains (hemoglobin O-Arab mutation) produced by both beta-globin gene (HBB) alleles. http://purl.obolibrary.org/obo/SCDO_1000232 Hemoglobin Genotype CC http://purl.obolibrary.org/obo/SCDO_0004061 Genotype The homozygous genotype that involves a substitution of glutamic acid for a lysine at position 6 of beta-globin chains (hemoglobin C mutation) produced by both beta-globin gene (HBB) alleles. http://purl.obolibrary.org/obo/SCDO_1000233 Hemoglobin Genotype M http://purl.obolibrary.org/obo/SCDO_0004061 Genotype The presence of an amino acid substitution in either an alpha-, beta-, or gamma-globin chain such that its proximity to the heme iron in the hemoglobin molecule results in facilitated oxidation of the hemoglobin to yield excess methemoglobin. This can occur in either one or both alleles of the effected gene. http://purl.obolibrary.org/obo/SCDO_1000235 Hereditary Persistence of Fetal Hemoglobin Genotype http://purl.obolibrary.org/obo/SCDO_0004061 Genotype Either homozygosity or heterozygosity for the HPFH1 mutation, a 106-KB deletion in the beta globin gene cluster. http://purl.obolibrary.org/obo/SCDO_1000236 Hemoglobin Lepore Boston Genotype http://purl.obolibrary.org/obo/SCDO_0007624 Beta Thalassemia Genotype The homozygous genotype for Hemoglobin Lepore Boston that involves a crossover between both sets of delta (HBD) and beta globin (HBB) gene loci during meiosis. http://purl.obolibrary.org/obo/SCDO_1000237 Hemoglobin C-Harlem Trait http://purl.obolibrary.org/obo/NCIT_C95534 Hemoglobin Trait The inheritance of one normal HBB gene along with an abnormal HBB gene that contains two amino acid substitutions, namely Glu6Val (HbS) and Asp73Asn. http://purl.obolibrary.org/obo/SCDO_1000238 CYB5R3 Mutation http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation A mutation in the NADH-Cytochrome b5 Reductase 3 gene, CYB5R3, that contributes to the presence of methemoglobinemia (type I or II). http://purl.obolibrary.org/obo/SCDO_1000239 Heterozygous Deletion of HBA1 or HBA2 http://purl.obolibrary.org/obo/SCDO_0001386 Alpha-Globin Locus Deletion Deletion of one alpha-globin gene, either an HBA1 or HBA2 gene, which results in Alpha Thalassemia Silent (the person with the mutation is a silent carrier). http://purl.obolibrary.org/obo/SCDO_1000240 Reduced or Absent Hemoglobin A http://purl.obolibrary.org/obo/SCDO_1000061 Altered Level of Normal Hemoglobin in SCD Either a decrease in the proportion of hemoglobin A to below 96-98% of all hemoglobin, or a complete lack of hemoglobin A production. http://purl.obolibrary.org/obo/SCDO_1000241 Absent Hemoglobin A http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration A lack of production of normal adult hemoglobin. http://purl.obolibrary.org/obo/SCDO_1000243 Autosomal Recessive Compound Heterozygous http://purl.obolibrary.org/obo/HP_0000007 Autosomal Recessive A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals that are compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). http://purl.obolibrary.org/obo/SCDO_1000244 Sickle Cell Trait with a Severe Pyruvate Kinase Deficiency http://purl.obolibrary.org/obo/SCDO_1000211 Dominant Sickle Cell Disease A sickle cell disease phenotype in which an individual heterozygous for hemoglobin S also has a severe pyruvate kinase deficiency, which lowers the hemoglobin oxygen affinity, resulting in hemoglobin S polymerization and sickling. http://purl.obolibrary.org/obo/SCDO_1000247 L-Glutamine Oral Powder http://purl.obolibrary.org/obo/CHEBI_23888 Drug A powder form of the optically active form of glutamine having L-configuration; to be administered orally. http://purl.obolibrary.org/obo/SCDO_1000250 deprecated Abnormal Molecular Function http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms A phenotype in which a specific molecular function is abnormal. http://purl.obolibrary.org/obo/SCDO_1000251 Increased Red Cell Osmotic Fragility http://purl.obolibrary.org/obo/HP_0020054 Abnormal Erythrocyte Physiology An increase in red blood cell sensitivity to change in osmotic pressure. More specifically, the degree or proportion of hemolysis that occurs when a sample of red blood cells are subjected to osmotic stress by being placed in a hypotonic solution. http://purl.obolibrary.org/obo/SCDO_1000253 Abnormal Biological Process http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype A situation in which a specific biological process within an organism is abnormal. http://purl.obolibrary.org/obo/SCDO_1000254 Polymerisation of Hemoglobin http://purl.obolibrary.org/obo/SCDO_1000253 Abnormal Biological Process When deoxygenated, malfunctioning or mutated hemoglobins clump together and form a long polymer. http://purl.obolibrary.org/obo/SCDO_1000255 Guidelines on Red Cell Transfusion in Sickle Cell Disease - Part II: Indications for Transfusion http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline Guidelines that examine current available evidence on indications for transfusion in sickle cell disease. http://purl.obolibrary.org/obo/SCDO_1000256 Sickle Cell Acute Painful Episode - Management of an Acute Painful Sickle Cell Episode in Hospital http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline This guideline addresses the management of an acute painful sickle cell episode in patients presenting to hospital until discharge. This includes the use of pharmacological and non-pharmacological interventions, identifying the signs and symptoms of acute complications, skills and settings for managing an acute painful episode, and the information and support needs of patients. http://purl.obolibrary.org/obo/SCDO_1000257 Three Tips About Sickle Cell Disease Every Emergency Provider Needs to Know http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline A factsheet that shares steps to improve care in emergency departments (ED) of hospitals and clinics for people with sickle cell disease (SCD). It was created to help improve healthcare in the ED for patients with SCD. http://purl.obolibrary.org/obo/SCDO_1000258 Practice Guidelines: Management of Pain in Sickle Cell Disease http://purl.obolibrary.org/obo/SCDO_1000143 Disease Management Guideline A comprehensive guideline to aid physicians and other health care professionals in the management of patients with acute and chronic pain associated with sickle cell disease (SCD). The guideline covers the following information: an overview of the disease, the types and characteristics of pain associated with the disease, recommendations for pain assessment, methods for treatment of pain and a discussion of pain in the various developmental stages. It also includes discussions of pain assessment instruments. http://purl.obolibrary.org/obo/SCDO_1000259 Unusual Hemoglobin http://purl.obolibrary.org/obo/SCDO_0006921 Hemoglobin Variant A hemoglobin that shows characteristics of an abnormal hemoglobin, but its inheritance does not accompany any disability. http://purl.obolibrary.org/obo/SCDO_1000260 Symptom Induced by Strenuous Exercise http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Any feeling of illness or physical or mental change that results from strenuous exercise. http://purl.obolibrary.org/obo/SCDO_1000261 Avitaminosis http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed) http://purl.obolibrary.org/obo/SCDO_1000268 Abnormality of the Musculature http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Abnormality originating in one or more muscles of the set of muscles in the body. http://purl.obolibrary.org/obo/SCDO_1000276 Abnormal Hemoglobin Level in SCD http://purl.obolibrary.org/obo/SCDO_1000060 SCD Molecular Phenotype An abnormal level of hemoglobin that occurs in one or more forms of Sickle Cell Disease (SCD). http://purl.obolibrary.org/obo/SCDO_1000280 Transfusion Hemochromatosis http://purl.obolibrary.org/obo/SCDO_1000281 Secondary Hemochromatosis Hemochromatosis that results from repeated blood transfusions. http://purl.obolibrary.org/obo/SCDO_1000281 Secondary Hemochromatosis http://purl.obolibrary.org/obo/NCIT_C78393 Iron Overload An acquired metabolic disorder characterized by iron accumulation in the tissues. http://purl.obolibrary.org/obo/SCDO_1000289 Hemoglobin D-Punjab Present http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration When the abnormal hemoglobin, hemoglobin D-Punjab (Hb D-Punjab), has been detected in a blood sample. http://purl.obolibrary.org/obo/SCDO_1000290 Hemoglobin G-Philadelphia Present http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration When the abnormal hemoglobin, hemoglobin G-Philadelphia (Hb G-Philadelphia), has been detected in a blood sample. http://purl.obolibrary.org/obo/SCDO_1000291 Hemoglobin O-Arab Present http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration When the abnormal hemoglobin, hemoglobin O-Arab (Hb O-Arab), has been detected in a blood sample. http://purl.obolibrary.org/obo/SCDO_1000292 Normal Hemoglobin F Level http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration When the level of hemoglobin F detected in a sample of blood falls in the normal range for HbF. http://purl.obolibrary.org/obo/SCDO_1000295 Quality of Life Assessment Score http://purl.obolibrary.org/obo/SCDO_1000318 Diagnostic Instrument Measurement The score obtained from a quality of life-related diagnostic instrument. http://purl.obolibrary.org/obo/SCDO_1000296 ASCQ-Me Score http://purl.obolibrary.org/obo/SCDO_1000295 Quality of Life Assessment Score The score obtained from the Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me) diagnostic instrument. http://purl.obolibrary.org/obo/SCDO_1000298 Hepatitis B Virus Surface Antigen Test http://purl.obolibrary.org/obo/SCDO_0000616 Immunochemical Assay A deteremination of the presence of hepatitis B virus surface antigen. http://purl.obolibrary.org/obo/SCDO_1000299 Hepatitis B Surface Antibody Test http://purl.obolibrary.org/obo/SCDO_1000302 Hepatitis B Virus Antibody Test The determination of the surface antibody reaction of a sample to the Hepatitis B virus. http://purl.obolibrary.org/obo/SCDO_1000300 Hepatitis B Core Antibody Test http://purl.obolibrary.org/obo/SCDO_1000302 Hepatitis B Virus Antibody Test The determination of the amount of Hepatitis B virus core antibody present in a sample. http://purl.obolibrary.org/obo/SCDO_1000301 Hepatitis B Blood Panel http://purl.obolibrary.org/obo/SCDO_0000616 Immunochemical Assay A set of three blood tests (Hepatitis B Core Antibody Test, Hepatitis B Surface Antibody Test, and Hepatitis B Virus Surface Antigen Test) needed to fully understand whether a person is infected with Hepatitis B or not. http://purl.obolibrary.org/obo/SCDO_1000302 Hepatitis B Virus Antibody Test http://purl.obolibrary.org/obo/SCDO_0000616 Immunochemical Assay The determination of the amount of hepatitis B virus antibody present in a sample. http://purl.obolibrary.org/obo/SCDO_1000303 Hepatitis B Core IgG Antibody Test http://purl.obolibrary.org/obo/SCDO_1000300 Hepatitis B Core Antibody Test The determination of the amount of hepatitis B virus core IgG antibody in a biological specimen. http://purl.obolibrary.org/obo/SCDO_1000304 Hepatitis B Core IgM Antibody Test http://purl.obolibrary.org/obo/SCDO_1000300 Hepatitis B Core Antibody Test The determination of the amount of Hepatitis B virus core IgM antibody present in a sample. http://purl.obolibrary.org/obo/SCDO_1000305 Pulse Oximetry (Exercise) http://purl.obolibrary.org/obo/NCIT_C38085 Pulse Oximetry Exercise testing for evaluation of hypoxemia and/or desaturation that occurs on exertion. http://purl.obolibrary.org/obo/SCDO_1000306 Hepatitis C Virus Antigen Test http://purl.obolibrary.org/obo/SCDO_0000616 Immunochemical Assay The determination of the amount of hepatitis C virus antigen present in a sample. http://purl.obolibrary.org/obo/SCDO_1000307 Hepatitis C Antibody Test http://purl.obolibrary.org/obo/SCDO_0000616 Immunochemical Assay A determination of the presence of the hepatitis C virus antibody in a biological specimen. http://purl.obolibrary.org/obo/SCDO_1000308 Hepatitis C Virus Core Antigen Test http://purl.obolibrary.org/obo/SCDO_1000306 Hepatitis C Virus Antigen Test The determination of the amount of hepatitis C virus core antigen in a biological sample. http://purl.obolibrary.org/obo/SCDO_1000309 Hepatitis C Surface Antibody Test http://purl.obolibrary.org/obo/SCDO_1000307 Hepatitis C Antibody Test The determination of the surface antibody reaction of a sample to the Hepatitis C virus. http://purl.obolibrary.org/obo/SCDO_1000310 Cystatin C Blood Test http://purl.obolibrary.org/obo/SCDO_0000676 Kidney Function Test The determination of the amount of cystatin C present in a sample. http://purl.obolibrary.org/obo/SCDO_1000313 Diagnostic Device Visual Output http://purl.obolibrary.org/obo/SCDO_0000379 Diagnostics The visual output that a specific diagnostic device produces. http://purl.obolibrary.org/obo/SCDO_1000314 Red Blood Cell Microparticles Assay http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A bioassay to measure levels of red blood cell microparticles. http://purl.obolibrary.org/obo/SCDO_1000316 Blood Flow Test http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay A technique used to measure velocity and amount of blood flow and circulation in the living system. http://purl.obolibrary.org/obo/SCDO_1000317 Heart Measurement http://purl.obolibrary.org/obo/CMO_0000001 Cardiovascular Measurement Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart. http://purl.obolibrary.org/obo/SCDO_1000318 Diagnostic Instrument Measurement http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement An information entity, used in the diagnosis of medical conditions, that is a recording of the output of a diagnostic instrument. http://purl.obolibrary.org/obo/SCDO_1000319 Cigarette Smoking Status Diagnostic Instrument http://purl.obolibrary.org/obo/SCDO_1000033 Diagnostic Instrument Questions asking the respondent about smoking status in his or her entire life. http://purl.obolibrary.org/obo/SCDO_1000321 Cigarette Smoking Status Diagnostic Instrument - Adolescent http://purl.obolibrary.org/obo/SCDO_1000319 Cigarette Smoking Status Diagnostic Instrument Questions asking an adolescentt respondent about smoking status in his or her entire life. http://purl.obolibrary.org/obo/SCDO_1000322 Never Smoker http://purl.obolibrary.org/obo/SCDO_0000235 Cigarette Smoking Status A person who has never smoked a cigarette, not even one or two puffs. http://purl.obolibrary.org/obo/SCDO_1000323 Current Every-Day Smoker http://purl.obolibrary.org/obo/SCDO_0000235 Cigarette Smoking Status A person who was smoking on a daily basis at the time of the interview. http://purl.obolibrary.org/obo/SCDO_1000324 Current Some-Day Smoker http://purl.obolibrary.org/obo/SCDO_0000235 Cigarette Smoking Status A person who had smoked a cigarette in the past, and was smoking on some days, but not daily, at the time of the interview. http://purl.obolibrary.org/obo/SCDO_1000325 Former Smoker http://purl.obolibrary.org/obo/SCDO_0000235 Cigarette Smoking Status A person who was not smoking at the time of the interview but has smoked a cigarette in the past, even if just one or two puffs http://purl.obolibrary.org/obo/SCDO_1000326 Ever-Smoker http://purl.obolibrary.org/obo/SCDO_0000235 Cigarette Smoking Status A person who has smoked a cigarette in the past, even if just one or two puffs, but was unable to or refused to answer when asked when the last time was that they smoked a cigarette, even one or two puffs. http://purl.obolibrary.org/obo/SCDO_1000327 Past 30-Day Smoker http://purl.obolibrary.org/obo/SCDO_0000235 Cigarette Smoking Status A person who had smoked in the past 30 days at the time of the interview, but who had not smoked every day of the past 30 days. http://purl.obolibrary.org/obo/SCDO_1000328 Past 30-Day Every-Day Smoker http://purl.obolibrary.org/obo/SCDO_0000235 Cigarette Smoking Status A person who had smoked every day of the past 30 days at the time of the interview. http://purl.obolibrary.org/obo/SCDO_1000329 Alcohol - Lifetime Use Diagnostic Instrument http://purl.obolibrary.org/obo/SCDO_1000474 Clinical or Research Assessment Data Element Question asking the respondent if s/he has ever consumed any alcoholic beverage during his or her entire life. http://purl.obolibrary.org/obo/SCDO_1000330 Epilepsy Screener - Adult http://purl.obolibrary.org/obo/SCDO_0000440 Epilepsy Screener A nine-item, interviewer-administered questionnaire to screen for the presence of epilepsy in adults. http://purl.obolibrary.org/obo/SCDO_1000331 Epilepsy Screener - Child/Proxy http://purl.obolibrary.org/obo/SCDO_0000440 Epilepsy Screener A nine-item, interviewer-administered questionnaire to screen for the presence of epilepsy in family members, including children and those who are deceased. http://purl.obolibrary.org/obo/SCDO_1000332 Executive Dysfunction http://purl.obolibrary.org/obo/HP_0000708 Behavioural Abnormality A disruption to the efficacy of the executive functions, which is a group of cognitive processes that regulate, control, and manage other cognitive processes. http://purl.obolibrary.org/obo/SCDO_1000333 Global Mental Status Screener - Child http://purl.obolibrary.org/obo/SCDO_0000455 Global Mental Status Screener A series of 21 age-specific questionnaires and scoring sheets designed to screen a child's skills in five developmental areas: fine motor, gross motor, problem solving, communication, and personal-social. A child's scores for each area are compared to cut-off scores to determine a need for monitoring or further assessment. http://purl.obolibrary.org/obo/SCDO_1000336 Frequency of Sickle Cell Pain Episodes http://purl.obolibrary.org/obo/SCDO_1000318 Diagnostic Instrument Measurement The frequency of acute pain episodes due to sickle cell disease (SCD). http://purl.obolibrary.org/obo/SCDO_1000337 Substances - Lifetime Use Diagnostic Instrument http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire Questions from the National Epidemiologic Survey on Alcohol and Related Conditions-III (NESARC-III) related to their lifetime use of illicit and prescribed substances. http://purl.obolibrary.org/obo/SCDO_1000338 Sleep Disorders Screener - Children http://purl.obolibrary.org/obo/SCDO_1000348 Sleep Disorders Screener A 26-item, self-administered scale completed by the parent that assesses the child's sleep behaviors in the past 6 months. The scale includes six subscales: disorders of initiating and maintaining sleep (items 1, 2, 3, 4, 5, 10, 11); sleep breathing disorders (items 13, 14, 15); disorders of arousal (items 17, 20, 21); sleep-wake transition disorders (items 6, 7, 8, 12, 18, 19); disorders of excessive somnolence (items 22, 23, 24, 25, 26); and sleep hyperhidrosis (score of the items 9, 16). Each item is rated on a 5-point, Likert-type scale (1 = Never; 5 = Always [daily]). Scores from individual items of each subscale are added together to give a subscale score, with higher scores indicating greater symptoms. Scores from the individual subscales can be added together to give a total score. http://purl.obolibrary.org/obo/SCDO_1000339 History of Head Trauma http://purl.obolibrary.org/obo/NCIT_C18772 Personal Medical History A record of an individual's background in regard to head trauma. http://purl.obolibrary.org/obo/SCDO_1000340 History of Stroke http://purl.obolibrary.org/obo/NCIT_C18772 Personal Medical History A record of an individual's history of stroke(s) and associated symptoms such as slurred speech, double vision, loss of vision, and paralysis. http://purl.obolibrary.org/obo/SCDO_1000341 History of Kidney Failure http://purl.obolibrary.org/obo/NCIT_C18772 Personal Medical History A record of an individual's history of kidney failure. http://purl.obolibrary.org/obo/SCDO_1000343 History of Type 1 and Type 2 Diabetes http://purl.obolibrary.org/obo/NCIT_C18772 Personal Medical History A record of an individual's history of type 1 and type 2 diabetes. http://purl.obolibrary.org/obo/SCDO_1000344 Reproductive History Diagnostic Instrument - Male http://purl.obolibrary.org/obo/SCDO_0000987 Reproductive History Diagnostic Instrument A questionnaire to assess males' pregnancy history. http://purl.obolibrary.org/obo/SCDO_1000345 Reproductive History Diagnostic Instrument - Female http://purl.obolibrary.org/obo/SCDO_0000987 Reproductive History Diagnostic Instrument A questionnaire to assess females' pregnancy history. http://purl.obolibrary.org/obo/SCDO_1000348 Sleep Disorders Screener http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to assess sleep disorders, a broad group of disorders that can be caused by endogenous disturbances in the sleep-wake or timing cycles (American Psychiatric Association, 2000). http://purl.obolibrary.org/obo/SCDO_1000350 Heart Valve Function Test http://purl.obolibrary.org/obo/SCDO_0000500 Heart Function Test A test to assess the structure and function of the heart valves. http://purl.obolibrary.org/obo/SCDO_1000352 Spirometry - Adult http://purl.obolibrary.org/obo/NCIT_C85397 Spirometry Measurement of the breathing capacity of an adult's lung by means of a spirometer. http://purl.obolibrary.org/obo/SCDO_1000353 Spirometry - Child http://purl.obolibrary.org/obo/NCIT_C85397 Spirometry Measurement of the breathing capacity of a child's lung by means of a spirometer. http://purl.obolibrary.org/obo/SCDO_1000354 Health Risk Behavior http://purl.obolibrary.org/obo/SCDO_0000487 Health Behaviour Pattern of behavior which predisposes certain individuals to increased risk for contracting disease or sustaining personal injury. These behaviors may cluster into a risky lifestyle. http://purl.obolibrary.org/obo/SCDO_1000355 Health Facility Environment http://purl.obolibrary.org/obo/ExO_0000048 Built Environment Physical surroundings or conditions of a hospital or other health facility and influence of these factors on patients and staff. http://purl.obolibrary.org/obo/SCDO_1000356 Altitude http://purl.obolibrary.org/obo/SCDO_0000897 Physical Environment Height above sea level or above the earth's surface. http://purl.obolibrary.org/obo/SCDO_1000357 Self Reported Educational Attainment http://purl.obolibrary.org/obo/SCDO_0000305 Current Educational Attainment A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated. http://purl.obolibrary.org/obo/SCDO_1000360 Globin Gene http://purl.obolibrary.org/obo/NCIT_C16612 Gene A gene that encodes one of the globin family proteins, which are globular heme-containing proteins and include androglobin, cryoglobin, hemoglobin subunits, myoglobin and neuroglobin. http://purl.obolibrary.org/obo/SCDO_1000361 Alpha-Globin Gene http://purl.obolibrary.org/obo/SCDO_1000360 Globin Gene A gene that provides instructions for making a protein called alpha-globin. http://purl.obolibrary.org/obo/SCDO_1000362 Beta-Globin Gene http://purl.obolibrary.org/obo/SCDO_1000360 Globin Gene A gene located in the beta-globin locus (or gene cluster) on chromosome 11. http://purl.obolibrary.org/obo/SCDO_1000363 Hemoglobin Subunit Zeta http://purl.obolibrary.org/obo/SCDO_1000105 Alpha-Globin Family Members A member of the alpha-globin family. In humans, it is encoded in the alpha-globin gene cluster or locus, located on chromosome 16. Two hemoglobin subunit zeta chains combine with two hemoglobin subunit epsilon chains to form the embryonic Hemoglobin Gower 1. http://purl.obolibrary.org/obo/SCDO_1000364 Hemoglobin A2 http://purl.obolibrary.org/obo/SCDO_0006835 Normal Hemoglobin An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia. http://purl.obolibrary.org/obo/SCDO_1000366 Delta Beta Thalassemia Mutation http://purl.obolibrary.org/obo/SCDO_0009731 Beta Thalassemia Mutation A mutation that contributes to decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. http://purl.obolibrary.org/obo/SCDO_1000371 Prenatal Maternal Abnormality http://purl.obolibrary.org/obo/HP_0001197 Abnormality of Prenatal Development or Birth A health abnormality in a woman during pregnancy. http://purl.obolibrary.org/obo/SCDO_1000376 Osteonecrosis of the Humeral Head http://purl.obolibrary.org/obo/HP_0010885 Osteonecrosis In situ death of bone within the humeral head due to disruption of blood supply. http://purl.obolibrary.org/obo/SCDO_1000379 Culturally Competent Care http://purl.obolibrary.org/obo/SCDO_0000246 Clinical Competence Health care services that are respectful of and responsive to the health beliefs, practices and cultural and linguistic needs of diverse patients. The provider and the patient each bring their individual learned patterns of language and culture to the health care experience which must be transcended to achieve equal access and quality health care. http://purl.obolibrary.org/obo/SCDO_1000392 Sp1 Transcription Factor http://purl.obolibrary.org/obo/NCIT_C26548 Gene Product Promoter-specific RNA polymerase II transcription factor that binds to the GC box, one of the upstream promoter elements, in mammalian cells. The binding of Sp1 is necessary for the initiation of transcription in the promoters of a variety of cellular and viral GENES. http://purl.obolibrary.org/obo/SCDO_1000394 Gene Component http://purl.obolibrary.org/obo/SCDO_0005722 Genetic Structure A gene component is a component of a gene. http://purl.obolibrary.org/obo/SCDO_1000395 Gene Regulatory Component http://purl.obolibrary.org/obo/SCDO_1000394 Gene Component A gene regulatory component is a gene component that exerts a regulatory function. http://purl.obolibrary.org/obo/SCDO_1000396 Gene Enhancer http://purl.obolibrary.org/obo/SCDO_1000395 Gene Regulatory Component A gene enhancer is a short region of DNA that can be bound with proteins to enhance transcription levels of genes in a gene cluster. http://purl.obolibrary.org/obo/SCDO_1000397 Gene Promoter http://purl.obolibrary.org/obo/SCDO_1000395 Gene Regulatory Component A gene promoter is a region of DNA that initiates transcription of a particular gene. http://purl.obolibrary.org/obo/SCDO_1000401 Data Descriptor http://purl.obolibrary.org/obo/SCDO_0006339 Research A characteristic that further describes the nature of data. http://purl.obolibrary.org/obo/SCDO_1000402 Journal Article http://purl.obolibrary.org/obo/SCDO_0300003 Publication Formats The predominant publication type for articles and other items indexed for NLM databases. http://purl.obolibrary.org/obo/SCDO_1000406 Data Sharing Descriptor http://purl.obolibrary.org/obo/SCDO_0006339 Research A characteristic or directive that further describes the nature of data sharing. http://purl.obolibrary.org/obo/SCDO_1000421 Participant Feedback Policy http://purl.obolibrary.org/obo/SCDO_1000424 Study Policy The standard method of providing feedback to study participants regarding their information (data, biological samples, genetic material) that has been shared. http://purl.obolibrary.org/obo/SCDO_1000422 Basic Element of a Consent Form http://purl.obolibrary.org/obo/SCDO_0007597 Descriptor of Consent An element or information entity that is required to be provided in consent forms. http://purl.obolibrary.org/obo/SCDO_1000423 Participant Withdrawal Policy http://purl.obolibrary.org/obo/SCDO_1000424 Study Policy The policy regarding participants' right to withdraw their participation in a study. http://purl.obolibrary.org/obo/SCDO_1000424 Study Policy http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics A course or principle of action adopted or proposed by a study. http://purl.obolibrary.org/obo/SCDO_1000425 Study Focus Statement http://purl.obolibrary.org/obo/SCDO_1000422 Basic Element of a Consent Form A statement of what the key investigational purpose of the study is. http://purl.obolibrary.org/obo/SCDO_1000426 Communicable Disease - Report by Law Statement http://purl.obolibrary.org/obo/SCDO_1000422 Basic Element of a Consent Form A statement about how the researcher is obligated by law to report if the participant is found to have a communicable disease. http://purl.obolibrary.org/obo/SCDO_1000429 Medical Ethics http://purl.obolibrary.org/obo/SCDO_0006706 Bioethics The principles of professional conduct concerning the rights and duties of the physician, relations with patients and fellow practitioners, as well as actions of the physician in patient care and interpersonal relations with patient families. http://purl.obolibrary.org/obo/SCDO_1000430 Ethics Related Concept http://purl.obolibrary.org/obo/SCDO_0006339 Research Concepts related to ethics, excluding types of ethics. http://purl.obolibrary.org/obo/SCDO_1000431 Intestinal Fatty-Acid Binding Protein http://purl.obolibrary.org/obo/NCIT_C26548 Gene Product A protein expressed in enterocytes of the small intestine and released into the systemic circulation when there is intestinal damage. This protein plays a role in binding to saturated long-chain fatty acids with a high affinity and to unsaturated long-chain fatty acids with less affinity. http://purl.obolibrary.org/obo/SCDO_1000432 Serum iFABP Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The level of intestinal fatty-acid binding protein in the systemic circulation (serum). http://purl.obolibrary.org/obo/SCDO_1000433 Intestinal Injury http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System Damage inflicted on the intestine. http://purl.obolibrary.org/obo/SCDO_1000436 Hypoxia-Reperfusion Injury http://purl.obolibrary.org/obo/NCIT_C3671 Injury Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury. http://purl.obolibrary.org/obo/SCDO_1000439 Elevated Serum iFABP Level http://purl.obolibrary.org/obo/HP_0010876 Abnormal Circulating Protein Level An increased circulating blood concentration of the intestinal fatty-acid binding protein. http://purl.obolibrary.org/obo/SCDO_1000444 Serum L-Selectin Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The level of L-selectin in the systemic circulation (serum). http://purl.obolibrary.org/obo/SCDO_1000445 Aged Neutrophil Count http://purl.obolibrary.org/obo/CMO_0000030 Blood Neutrophil Count The number of aged neutrophils in a specified volume of blood, usually 1 cubic millimeter. http://purl.obolibrary.org/obo/SCDO_1000448 Adjunct Analgesic Agent http://purl.obolibrary.org/obo/SCDO_0001133 Symptomatic Therapeutics A medication that is typically used for indications other than pain control but provides control of pain in some painful diseases. http://purl.obolibrary.org/obo/SCDO_1000449 Low-Dose Ketamine Infusion http://purl.obolibrary.org/obo/SCDO_1000448 Adjunct Analgesic Agent An infusion of ketamine at a low dose (up to 5 µg/kg/min). http://purl.obolibrary.org/obo/SCDO_1000452 Cancer Pain http://purl.obolibrary.org/obo/SCDO_0000851 Pain Pain that may be caused by or related to cellular, tissue, and systemic changes that occur during neoplasm growth, tissue invasion, and metastasis. http://purl.obolibrary.org/obo/SCDO_1000455 Calculated Current Age (Years) http://purl.obolibrary.org/obo/SCDO_1000527 Calculated Current Age The current age of a patient, calculated using the current date and the patient's date of birth and provided in years. http://purl.obolibrary.org/obo/SCDO_1000457 Temporal Consent Concept http://purl.obolibrary.org/obo/NCIT_C25460 Consent A type of consent that includes an aspect of timing (i.e. an indication of when consent was acquired). http://purl.obolibrary.org/obo/SCDO_1000458 Prospective Consent http://purl.obolibrary.org/obo/SCDO_1000457 Temporal Consent Concept Consent given prior to enrollment. http://purl.obolibrary.org/obo/SCDO_1000459 Deferred Consent http://purl.obolibrary.org/obo/SCDO_1000457 Temporal Consent Concept Consent that is taken later after enrollment into study especially in emergency situations. http://purl.obolibrary.org/obo/SCDO_1000460 Prospective Informed Consent http://purl.obolibrary.org/obo/SCDO_1000458 Prospective Consent Informed consent given prior to enrollment. http://purl.obolibrary.org/obo/SCDO_1000461 Waived Consent http://purl.obolibrary.org/obo/NCIT_C25460 Consent Consent obtained at a population level through public/community engagement where individual consenting is not feasible. This is normally done for low risk studies and/or in case of emergencies. http://purl.obolibrary.org/obo/SCDO_1000462 Research Ethics Committee Decision http://purl.obolibrary.org/obo/SCDO_1000430 Ethics Related Concept A decision made by a research ethics committee. http://purl.obolibrary.org/obo/SCDO_1000463 Approval of Ethics http://purl.obolibrary.org/obo/SCDO_1000462 Research Ethics Committee Decision When a research ethics committee approves a study's application for approval of their proposed research. http://purl.obolibrary.org/obo/SCDO_1000464 Disapproval of Ethics http://purl.obolibrary.org/obo/SCDO_1000462 Research Ethics Committee Decision When a research ethics committee declines a study's application for approval of their proposed research. http://purl.obolibrary.org/obo/SCDO_1000465 Mode of Providing Consent http://purl.obolibrary.org/obo/SCDO_0007597 Descriptor of Consent A method in which a patient or their legal representative provides consent. http://purl.obolibrary.org/obo/SCDO_1000466 Written Consent http://purl.obolibrary.org/obo/SCDO_1000465 Mode of Providing Consent When the participant or a legal representative or family member provides consent by filling out and/or signing a written form. http://purl.obolibrary.org/obo/SCDO_1000467 Verbal Consent http://purl.obolibrary.org/obo/SCDO_1000465 Mode of Providing Consent When the participant communicates consent orally rather than by filling out and signing a written form. Normally a witness is present when verbal consent is given. http://purl.obolibrary.org/obo/SCDO_1000470 SickleInAfrica Participant Number http://purl.obolibrary.org/obo/NCIT_C69256 Subject Unique Identifier A unique identifier assigned to a study participant's data when it is registered in the SickleInAfrica data registry. http://purl.obolibrary.org/obo/SCDO_1000471 Country of Data Collection http://purl.obolibrary.org/obo/SCDO_1000401 Data Descriptor The name of the country where the sample or data was collected. http://purl.obolibrary.org/obo/SCDO_1000472 Data Standards http://purl.obolibrary.org/obo/SCDO_0001000 SCDO The rules by which data are described and recorded. http://purl.obolibrary.org/obo/SCDO_1000474 Clinical or Research Assessment Data Element http://purl.obolibrary.org/obo/SCDO_1000472 Data Standards A data element used to capture or facilitate the capture of data in a clinical or research assessment. http://purl.obolibrary.org/obo/SCDO_1000475 Clinical or Research Assessment Question Type http://purl.obolibrary.org/obo/SCDO_1000472 Data Standards A type of question pertaining to a clinical or research assessment data element. http://purl.obolibrary.org/obo/SCDO_1000490 Consent Status http://purl.obolibrary.org/obo/SCDO_0007597 Descriptor of Consent The situation, with regard to obtaining consent from a respondent, at a particular stage during a process. http://purl.obolibrary.org/obo/SCDO_1000492 Close-Ended Question http://purl.obolibrary.org/obo/SCDO_1000475 Clinical or Research Assessment Question Type A question that provides the respondent with specific answer options to choose from. http://purl.obolibrary.org/obo/SCDO_1000493 Open-Ended Question http://purl.obolibrary.org/obo/SCDO_1000475 Clinical or Research Assessment Question Type A question that allows the respondent to give their own answer instead of selecting an answer from answer options. http://purl.obolibrary.org/obo/SCDO_1000494 Dichotomous Question http://purl.obolibrary.org/obo/SCDO_1000492 Close-Ended Question A close-ended question that provides two possible answers. http://purl.obolibrary.org/obo/SCDO_1000495 Multiple Choice Multiple Selection Question http://purl.obolibrary.org/obo/SCDO_1000492 Close-Ended Question A close-ended question that provides multiple answers for respondents to select from and allows for the selection of multiple options. http://purl.obolibrary.org/obo/SCDO_1000496 Multiple Choice Single Selection Question http://purl.obolibrary.org/obo/SCDO_1000492 Close-Ended Question A close-ended question that provides multiple answers for respondents to select from but allows for the selection of only one option. http://purl.obolibrary.org/obo/SCDO_1000497 True-False Question http://purl.obolibrary.org/obo/SCDO_1000494 Dichotomous Question A dichotomous question that has answer options "true" and "false". http://purl.obolibrary.org/obo/SCDO_1000498 Yes-No Question http://purl.obolibrary.org/obo/SCDO_1000494 Dichotomous Question A dichotomous question that has answer options "yes" and "no". http://purl.obolibrary.org/obo/SCDO_1000501 Open-Ended Question - Restricted http://purl.obolibrary.org/obo/SCDO_1000493 Open-Ended Question A open ended question that restricts the nature of the text answer that can be provided by the respondent. http://purl.obolibrary.org/obo/SCDO_1000502 Open-Ended Question - Free Text http://purl.obolibrary.org/obo/SCDO_1000493 Open-Ended Question A open ended question that allows the respondent to respond in free text, without any restrictions on the nature of the text answer provided. http://purl.obolibrary.org/obo/SCDO_1000508 SickleInAfrica Data Element http://purl.obolibrary.org/obo/SCDO_1000474 Clinical or Research Assessment Data Element A data element in a SickleInAfrica data capture instrument. http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element http://purl.obolibrary.org/obo/SCDO_1000508 SickleInAfrica Data Element A data element in the SickleInAfrica core data capture instrument. http://purl.obolibrary.org/obo/SCDO_1000510 SickleInAfrica CDE - Urinary Albumin Concentration Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the concentration of albumin in the respondent's urine. http://purl.obolibrary.org/obo/SCDO_1000512 SickleInAfrica CDE - Informed Consent Obtained Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether the respondent has consented as necessary. http://purl.obolibrary.org/obo/SCDO_1000513 Informed Consent Obtained http://purl.obolibrary.org/obo/SCDO_1000490 Consent Status An indication of whether informed consent was obtained from the respondent and/or their proxy. http://purl.obolibrary.org/obo/SCDO_1000514 Study Enrollment Consent http://purl.obolibrary.org/obo/SCDO_0007087 Informed Consent Voluntary authorization given by a respondent and/or their proxy to be enrolled into a study as a research subject. http://purl.obolibrary.org/obo/SCDO_1000515 Specimen Storage Consent http://purl.obolibrary.org/obo/SCDO_0007087 Informed Consent Voluntary authorization given by a study respondent and/or their proxy to have their specimen(s) stored. http://purl.obolibrary.org/obo/SCDO_1000516 Genetic Material Storage Consent http://purl.obolibrary.org/obo/SCDO_0007087 Informed Consent Voluntary authorization given by a study paticipant to have their genetic material stored. http://purl.obolibrary.org/obo/SCDO_1000520 SickleInAfrica CDE - Type of Informed Consent Obtained Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the type(s) of informed consent obtained from the participant. http://purl.obolibrary.org/obo/SCDO_1000521 Type of Informed Consent Obtained http://purl.obolibrary.org/obo/SCDO_1000490 Consent Status An indication of the type of informed consent that was obtained from the respondent and/or their proxies. http://purl.obolibrary.org/obo/SCDO_1000522 Temporal Observable of Consent http://purl.obolibrary.org/obo/SCDO_0007597 Descriptor of Consent Time-related information that can be observed and is related to consent. http://purl.obolibrary.org/obo/SCDO_1000527 Calculated Current Age http://purl.obolibrary.org/obo/SCDO_0000304 Current Age The current age of a patient, calculated using the current date and the patient's date of birth. http://purl.obolibrary.org/obo/SCDO_1000532 SickleInAfrica CDE - Date of Signing Consent Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the date on which the respondent signed the consent form for the relevant study. http://purl.obolibrary.org/obo/SCDO_1000533 SickleInAfrica CDE - Consented By Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the name of the person who managed the process of consenting the respondent. http://purl.obolibrary.org/obo/SCDO_1000534 Blood Transfusion Since Last Visit http://purl.obolibrary.org/obo/SCDO_1000318 Diagnostic Instrument Measurement An indication of whether the respondent has had a blood transfusion since their last hospital visit. This is any transfusion before enrolment if it is the patient's first hospital visit. http://purl.obolibrary.org/obo/SCDO_1000535 Consent Form Uploaded http://purl.obolibrary.org/obo/SCDO_1000490 Consent Status An indication of whether the consent form used for obtaining informed consent from the respondent has been uploaded to the relevant electronic system. http://purl.obolibrary.org/obo/SCDO_1000536 Consented By http://purl.obolibrary.org/obo/SCDO_0007597 Descriptor of Consent The name of the person who conducted consenting of the respondent. http://purl.obolibrary.org/obo/SCDO_1000537 Temporal Observable http://purl.obolibrary.org/obo/SCDO_0001000 SCDO Time-related information that can be observed. http://purl.obolibrary.org/obo/SCDO_1000538 Diagnosis Temporal Observable http://purl.obolibrary.org/obo/SCDO_1000553 Diagnosis Descriptor Time-related information that can be observed and is related to a diagnosis. http://purl.obolibrary.org/obo/SCDO_1000539 SickleInAfrica CDE - Visit Date Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the visit date, in the format dd/mm/yyyy. http://purl.obolibrary.org/obo/SCDO_1000542 SickleInAfrica CDE - Site Participant Number Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the site-specific unique identifier that was assigned to the study participant by the data collectors at the data collection site. http://purl.obolibrary.org/obo/SCDO_1000543 SickleInAfrica CDE - Date of Birth Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's date of birth in the format dd/mm/yyyy. http://purl.obolibrary.org/obo/SCDO_1000545 Calculated Current Age (Months) http://purl.obolibrary.org/obo/SCDO_1000527 Calculated Current Age The current age of a patient, calculated using the current date and the patient's date of birth and provided in months. http://purl.obolibrary.org/obo/SCDO_1000546 Self-Reported Current Age (Years) http://purl.obolibrary.org/obo/SCDO_0000304 Current Age The length of time that a person has lived since their birth up until the current day, as reported in years by the respondent. http://purl.obolibrary.org/obo/SCDO_1000547 SickleInAfrica CDE - Self-Reported Age Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's age, as reported by the respondent in years. http://purl.obolibrary.org/obo/SCDO_1000548 SickleInAfrica CDE - Current Marital Status Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's current marital status. http://purl.obolibrary.org/obo/SCDO_1000549 SickleInAfrica CDE - Date of Transfusion Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the date on which the respondent last received a blood transfusion. http://purl.obolibrary.org/obo/SCDO_1000550 SickleInAfrica CDE - SCD Other Test Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the type of SCD test that was used to diagnose the respondent, in the case where the type of test was not listed as an answer option in a previous data element. http://purl.obolibrary.org/obo/SCDO_1000551 SickleInAfrica CDE - Sex Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's sex. http://purl.obolibrary.org/obo/SCDO_1000552 SickleInAfrica CDE - Date of Diagnosis Known Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether the respondent knows the date of their SCD diagnosis. http://purl.obolibrary.org/obo/SCDO_1000553 Diagnosis Descriptor http://purl.obolibrary.org/obo/SCDO_0000379 Diagnostics Information or a description that further describes a diagnosis. http://purl.obolibrary.org/obo/SCDO_1000554 Date of Diagnosis Known http://purl.obolibrary.org/obo/SCDO_1000538 Diagnosis Temporal Observable An indication of whether the date of the respondent's diagnosis of a disease is known by the respondent or the respondent's guardian. http://purl.obolibrary.org/obo/SCDO_1000555 Date of SCD Diagnosis Known http://purl.obolibrary.org/obo/SCDO_1000554 Date of Diagnosis Known An indication of whether the date of the respondent's SCD diagnosis is known by the respondent or the respondent's guardian. http://purl.obolibrary.org/obo/SCDO_1000556 SickleInAfrica CDE - Date of Diagnosis Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's date of diagnosis in the format dd/mm/yyyy. http://purl.obolibrary.org/obo/SCDO_1000558 Date of SCD Diagnosis http://purl.obolibrary.org/obo/NCIT_C164339 Date of Diagnosis The date on which a diagnosis of sickle cell disease was made. http://purl.obolibrary.org/obo/SCDO_1000566 Date of Blood Transfusion http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details The date on which a patient received a blood transfusion. http://purl.obolibrary.org/obo/SCDO_1000568 Year of SCD Diagnosis http://purl.obolibrary.org/obo/NCIT_C168823 Year of Diagnosis The year in which a sickle cell disease diagnosis was made. http://purl.obolibrary.org/obo/SCDO_1000569 Month of Diagnosis http://purl.obolibrary.org/obo/SCDO_1000538 Diagnosis Temporal Observable The month when a diagnosis was assigned to an individual's condition. http://purl.obolibrary.org/obo/SCDO_1000570 Month of SCD Diagnosis http://purl.obolibrary.org/obo/SCDO_1000569 Month of Diagnosis The month when a sickle cell disease diagnosis was made. http://purl.obolibrary.org/obo/SCDO_1000571 SickleInAfrica CDE - Month of Diagnosis Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the month of the year in which the respondent was diagnosed with SCD. http://purl.obolibrary.org/obo/SCDO_1000572 Diagnosis http://purl.obolibrary.org/obo/NCIT_C18772 Personal Medical History A diagnosis is the result of a medical investigation to identify a disorder from its signs and symptoms. http://purl.obolibrary.org/obo/SCDO_1000573 SickleInAfrica CDE - SCD Test Result Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's SCD test result. http://purl.obolibrary.org/obo/SCDO_1000574 SCD Test Result http://purl.obolibrary.org/obo/CMO_0000508 Hemoglobin Measurement The result of a medical investigation to identify the type of sickle cell disease that a person has. http://purl.obolibrary.org/obo/SCDO_1000575 SickleInAfrica CDE - Type of SCD Test Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the type of SCD test that was used to diagnose the respondent. http://purl.obolibrary.org/obo/SCDO_1000576 Diagnostic Measurement Descriptor http://purl.obolibrary.org/obo/SCDO_0000379 Diagnostics A piece of information that further describes a diagnostic measurement. http://purl.obolibrary.org/obo/SCDO_1000577 Type of SCD Test http://purl.obolibrary.org/obo/SCDO_1000576 Diagnostic Measurement Descriptor The type of test that was used to obtain a sickle cell disease diagnosis. http://purl.obolibrary.org/obo/SCDO_1000578 SickleInAfrica CDE - SCD Test Other Result Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's SCD test result, in the case where the specific result was not listed as an answer option in a previous data element. http://purl.obolibrary.org/obo/SCDO_1000579 SickleInAfrica CDE - Blood Group Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's ABO Blood Group. http://purl.obolibrary.org/obo/SCDO_1000580 Hemoglobin Electrophoresis http://purl.obolibrary.org/obo/SCDO_0000424 Electrophoresis A blood test that uses the principles of gel electrophoresis to separate out the various types of hemoglobin in order to determine the level of different types of hemoglobin in the blood. http://purl.obolibrary.org/obo/SCDO_1000582 Blood Type A Positive http://purl.obolibrary.org/obo/HP_0032224 ABO Blood Group A blood type containing type A red blood cell surface markers, with the presence of a protein called rhesus (Rh) factor. http://purl.obolibrary.org/obo/SCDO_1000583 Blood Type A Negative http://purl.obolibrary.org/obo/HP_0032224 ABO Blood Group A blood type containing type A red blood cell surface markers, with the absence of a protein called rhesus (Rh) factor. http://purl.obolibrary.org/obo/SCDO_1000584 Blood Type B Positive http://purl.obolibrary.org/obo/HP_0032224 ABO Blood Group A blood type containing type B red blood cell surface markers, with the presence of a protein called rhesus (Rh) factor. http://purl.obolibrary.org/obo/SCDO_1000585 Blood Type B Negative http://purl.obolibrary.org/obo/HP_0032224 ABO Blood Group A blood type containing type B red blood cell surface markers, with the absence of a protein called rhesus (Rh) factor. http://purl.obolibrary.org/obo/SCDO_1000586 Blood Type O Positive http://purl.obolibrary.org/obo/HP_0032224 ABO Blood Group A blood type containing no surface markers on red blood cells, with the presence of a protein called rhesus (Rh) factor. http://purl.obolibrary.org/obo/SCDO_1000587 Blood Type O Negative http://purl.obolibrary.org/obo/HP_0032224 ABO Blood Group A blood type containing no surface markers on red blood cells, with the absence of a protein called rhesus (Rh) factor. http://purl.obolibrary.org/obo/SCDO_1000588 Blood Type AB Positive http://purl.obolibrary.org/obo/HP_0032224 ABO Blood Group A blood type containing both type A and B red blood cell surface markers, with the presence of a protein called rhesus (Rh) factor. http://purl.obolibrary.org/obo/SCDO_1000589 Blood Type AB Negative http://purl.obolibrary.org/obo/HP_0032224 ABO Blood Group A blood type containing both type A and B red blood cell surface markers, with the absence of a protein called rhesus (Rh) factor http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute Information about how a patient's SCD is being managed. http://purl.obolibrary.org/obo/SCDO_1000591 SickleInAfrica CDE - Hydroxyurea Use Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's hydroxyurea use status (i.e. an indication of whether the respondent is using hydroxyurea). http://purl.obolibrary.org/obo/SCDO_1000592 Hydroxyurea Use Status http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details An indication of whether the respondent is using hydroxyurea. http://purl.obolibrary.org/obo/SCDO_1000593 SickleInAfrica CDE - Hydroxyurea Initiation Date Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the date on which the respondent started hydroxyurea therapy, in the format dd/mm/yyyy. http://purl.obolibrary.org/obo/SCDO_1000594 Date of Hydroxyurea Therapy Initiation http://purl.obolibrary.org/obo/SCDO_1000537 Temporal Observable The date on which hydroxyurea therapy was initiated. http://purl.obolibrary.org/obo/SCDO_1000595 SickleInAfrica CDE - Penicillin V Use Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether the respondent is using penicillin V as a prophylaxis against bacterial infections. http://purl.obolibrary.org/obo/SCDO_1000596 Penicillin V Prophylaxis Use Status http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details An indication of whether the respondent is using penicillin V prophylaxis. http://purl.obolibrary.org/obo/SCDO_1000597 SickleInAfrica CDE - Folic Acid Use Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the respondent's folic acid use status (i.e. an indication of whether the respondent is using folic acid). http://purl.obolibrary.org/obo/SCDO_1000598 Folic Acid Use Status http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details An indication of whether the respondent is using folic acid. http://purl.obolibrary.org/obo/SCDO_1000599 Malaria Prophylaxis Status http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details An indication of whether the respondent is using malaria prophylaxis. http://purl.obolibrary.org/obo/SCDO_1000600 SickleInAfrica CDE - Malaria Prophylaxis Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether the respondent is using malaria chemoprophylaxis (drugs that prevent malaria). http://purl.obolibrary.org/obo/SCDO_1000601 SickleInAfrica CDE - Pneumococcal Vaccination Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether the respondent's pneumococcal vaccination is up to date. http://purl.obolibrary.org/obo/SCDO_1000602 Pneumococcal Vaccination Status http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details An indication of whether the respondent is up to date with their pneumococcal vaccinations. http://purl.obolibrary.org/obo/SCDO_1000604 Management Details Added By http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details The person who recorded the information about how a patient's condition is being managed. http://purl.obolibrary.org/obo/SCDO_1000605 Blood Urea Analysis http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test Any assay which measures the amount, level or concentration of urea in whole blood. http://purl.obolibrary.org/obo/SCDO_1000606 Management Details Add Date http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details The date on which the respondent's management details were added/recorded. http://purl.obolibrary.org/obo/SCDO_1000607 SickleInAfrica CDE - Red Blood Cell Count Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the red blood cell count in the respondent's blood, as measured by a complete blood count. http://purl.obolibrary.org/obo/SCDO_1000611 SickleInAfrica CDE - White Blood Cell Count Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the white blood cell count in the respondent's blood, as measured by a complete blood count. http://purl.obolibrary.org/obo/SCDO_1000612 Abnormal Leukocyte Morphology http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the Immune System Any structural abnormality of leukocytes (nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue). http://purl.obolibrary.org/obo/SCDO_1000615 SickleInAfrica CDE - Platelet Count Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the platelet count in the respondent's blood, as measured by a complete blood count. http://purl.obolibrary.org/obo/SCDO_1000619 SickleInAfrica CDE - Hemoglobin - CBC Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the concentration of hemoglobin in the respondent's blood, as measured by a complete blood count. http://purl.obolibrary.org/obo/SCDO_1000621 SickleInAfrica CDE - Mean Cell Volume Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's mean cell volume (MCV), as measured by a complete blood count. http://purl.obolibrary.org/obo/SCDO_1000627 SickleInAfrica CDE - Mean Cell Hemoglobin Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's mean cell hemoglobin (MCH), as measured by a complete blood count. http://purl.obolibrary.org/obo/SCDO_1000630 SickleInAfrica CDE - Mean Cell Hemoglobin Concentration Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's mean cell hemoglobin concentration (MCHC), as measured by a complete blood count. http://purl.obolibrary.org/obo/SCDO_1000637 SickleInAfrica CDE - Red Cell Distribution Width Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's red cell distribution width, as measured by a complete blood count. http://purl.obolibrary.org/obo/SCDO_1000638 Red Blood Cell Distribution Width http://purl.obolibrary.org/obo/CMO_0001356 Red Blood Cell Measurement Red blood cell distribution width (RDW or RDW-CV or RCDW and RDW-SD) is a measure of the range of variation of red blood cell (RBC) volume that is reported as part of a standard complete blood count. Usually red blood cells are a standard size of about 6-8 μm in diameter. Certain disorders, however, cause a significant variation in cell size. Higher RDW values indicate greater variation in size. Normal reference range of RDW-CV in human red blood cells is 11.5-14.5%.[1] If anemia is observed, RDW test results are often used together with mean corpuscular volume (MCV) results to determine the possible causes of the anemia. It is mainly used to differentiate an anemia of mixed causes from an anemia of a single cause. http://purl.obolibrary.org/obo/SCDO_1000645 SickleInAfrica CDE - Serum Creatinine Concentration Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the level of serum creatinine in the respondent's blood. http://purl.obolibrary.org/obo/SCDO_1000649 Elevated Serum Creatinine http://purl.obolibrary.org/obo/HP_0012100 Abnormal Circulating Creatinine Level An abnormally increased amount of creatinine in the blood. http://purl.obolibrary.org/obo/SCDO_1000650 SickleInAfrica CDE - Urinary Creatinine Concentration Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the concentration of creatinine in the respondent's urine. http://purl.obolibrary.org/obo/SCDO_1000657 SickleInAfrica CDE - Alanine Aminotransferase Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the level of alanine aminotransferase in the respondent's blood. http://purl.obolibrary.org/obo/SCDO_1000660 SickleInAfrica CDE - Aspartate Aminotransferase Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the level of aspartate aminotransferase in the respondent's blood. http://purl.obolibrary.org/obo/SCDO_1000662 SickleInAfrica CDE - Alkaline Phosphatase Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the level of alkaline phosphatase in the respondent's blood. http://purl.obolibrary.org/obo/SCDO_1000663 Alkaline Phosphatase Blood Test http://purl.obolibrary.org/obo/NCIT_C74954 Liver Function Test A quantitative measurement of alkaline phosphatase present in a blood sample. http://purl.obolibrary.org/obo/SCDO_1000669 Sickle SCAN Rapid Test http://purl.obolibrary.org/obo/SCDO_1000577 Type of SCD Test A multiplexed qualitative point-of-care immunoassay used for the rapid diagnosis of sickle cell disorders. The test is made up of three indicators which detect the presence of hemoglobins A, S, and C, allowing the user to rapidly distinguish between normal, carrier, and sickle cell samples. http://purl.obolibrary.org/obo/SCDO_1000673 Current Partner Status http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor An indication of a person's current status in terms of living with a person as though married (in a romantic relationship and living together but not married). http://purl.obolibrary.org/obo/SCDO_1000679 Past Partner Status http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor An indication of whether a person has previously lived with someone as though married (in a romantic relationship and lived together but were not married). http://purl.obolibrary.org/obo/SCDO_1000680 SickleInAfrica CDE - Total Bilirubin Concentration Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the level of billirubin in the respondent's blood. http://purl.obolibrary.org/obo/SCDO_1000682 SickleInAfrica CDE - Lactate Dehydrogenase Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the level of lactate dehydrogenase in the respondent's blood. http://purl.obolibrary.org/obo/SCDO_1000684 Reduced Lactate Dehydrogenase Level http://purl.obolibrary.org/obo/HP_0045040 Abnormal Lactate Dehydrogenase Level A decreased or reduced level of the enzyme lactate dehydrogenase in serum. http://purl.obolibrary.org/obo/SCDO_1000685 SickleInAfrica CDE - Reticulocyte Count Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the reticulocyte count in the respondent's blood, as measured by a complete blood count. http://purl.obolibrary.org/obo/SCDO_1000686 Reticulocyte Count Assay http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A test used to measure the reticulocyte count (number of reticulocytes in a given volume of blood). http://purl.obolibrary.org/obo/SCDO_1000687 SickleInAfrica CDE - Hb Assay Results Recorded Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the hemoglobins for which assay results were recorded. http://purl.obolibrary.org/obo/SCDO_1000688 Hemoglobin Assay Results Recorded http://purl.obolibrary.org/obo/SCDO_1000576 Diagnostic Measurement Descriptor The hemoglobins for which assay results were recorded. http://purl.obolibrary.org/obo/SCDO_1000689 Hemoglobin G-Philadelphia http://purl.obolibrary.org/obo/SCDO_0006921 Hemoglobin Variant Hemoglobin G Philadelphia (HbG Phil) is a structural variant of the hemoglobin molecule that involves the alpha chain rather than the beta chain. It has a frequency of about 1 in 5,000 African Americans, but has been reported in other ethnic groups in the Mediterranean region as well, HbG Phil itself has no clinical consequences. The only finding of clinical interest is the mild microcytosis. While this molecule has no clinical consequences, the presence helps to distinguish HbG from HbD that shares its electrophoretic migration on HPLC and gel electrophoresis and which does have consequences when it occurs with sickle trait. http://purl.obolibrary.org/obo/SCDO_1000690 Hemoglobin A Level http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile The amount of hemoglobin A present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000691 SickleInAfrica CDE - Hemoglobin A Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin A. http://purl.obolibrary.org/obo/SCDO_1000692 Hemoglobin S Level http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile The amount of hemoglobin S present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000693 SickleInAfrica CDE - Hemoglobin S Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin S. http://purl.obolibrary.org/obo/SCDO_1000694 SickleInAfrica CDE - Hemoglobin C Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin C. http://purl.obolibrary.org/obo/SCDO_1000695 Hemoglobin C Level http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile The amount of hemoglobin C present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000696 SickleInAfrica CDE - Hemoglobin E Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin E. http://purl.obolibrary.org/obo/SCDO_1000697 Hemoglobin E Level http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile The amount of hemoglobin E present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000698 Hemoglobin A2 Level http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile The amount of hemoglobin A2 present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000699 SickleInAfrica CDE - Hemoglobin A2 Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin A2. http://purl.obolibrary.org/obo/SCDO_1000700 SickleInAfrica CDE - Hemoglobin D-Punjab Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin D-Punjab. http://purl.obolibrary.org/obo/SCDO_1000701 Hemoglobin D-Punjab Level http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile The amount of hemoglobin D-Punjab present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000702 SickleInAfrica CDE - Hemoglobin G-Philadelphia Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin G-Philadelphia. http://purl.obolibrary.org/obo/SCDO_1000703 Hemoglobin G-Philadelphia Level http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile The amount of hemoglobin G-Philadelphia present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000704 SickleInAfrica CDE - Hemoglobin O-Arab Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin O-Arab. http://purl.obolibrary.org/obo/SCDO_1000705 Hemoglobin O-Arab Level http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile The amount of hemoglobin O-Arab present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000706 SickleInAfrica CDE - Hemoglobin F Level Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the proportion of the respondent's hemoglobin that consists of hemoglobin F. http://purl.obolibrary.org/obo/SCDO_1000707 Hemoglobin F Level http://purl.obolibrary.org/obo/SCDO_0000546 Hemoglobin Profile The amount of hemoglobin F present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000708 Sex of Spouse http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The sex of the respondent's spouse, as provided by the respondent. http://purl.obolibrary.org/obo/SCDO_1000709 Sex of Partner http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The sex of the respondent's partner (where the partner is not a spouse), as provided by the respondent. http://purl.obolibrary.org/obo/SCDO_1000711 SickleInAfrica CDE - Body Temperature Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's body temperature. http://purl.obolibrary.org/obo/SCDO_1000714 SickleInAfrica CDE - Respiratory Rate Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's respiratory rate. http://purl.obolibrary.org/obo/SCDO_1000717 SickleInAfrica CDE - Partial Pressure CO2 Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's partial pressure of carbon dioxide in their arterial blood, as measured by an arterial blood gas test. http://purl.obolibrary.org/obo/SCDO_1000722 SickleInAfrica CDE - Partial Pressure O2 Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's partial pressure of oxygen their arterial blood, as measured by an arterial blood gas test. http://purl.obolibrary.org/obo/SCDO_1000723 Partial Pressure of Oxygen http://purl.obolibrary.org/obo/CMO_0000225 Arterial Blood Gas Measurement The pressure exerted by oxygen dissolved in the blood, indicating how well oxygen is able to move from the airspace of the lungs into the blood. http://purl.obolibrary.org/obo/SCDO_1000724 SickleInAfrica CDE - Oxyhemoglobin Saturation Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's arterial oxygen saturation (oxyhemoglobin saturation), as measured by an arterial blood gas test. http://purl.obolibrary.org/obo/SCDO_1000725 SickleInAfrica CDE - Carboxyhemoglobin Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's carboxyhemoglobin to total hemoglobin ratio, as measured by an arterial blood gas test. http://purl.obolibrary.org/obo/SCDO_1000726 SickleInAfrica CDE - Methemoglobin Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the respondent's methemoglobin to total hemoglobin ratio, as measured by an arterial blood gas test. http://purl.obolibrary.org/obo/SCDO_1000727 Methemoglobin to Total Hemoglobin Ratio http://purl.obolibrary.org/obo/CMO_0000508 Hemoglobin Measurement The ratio of methemoglobin compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. http://purl.obolibrary.org/obo/SCDO_1000728 Carboxyhemoglobin to Total Hemoglobin Ratio http://purl.obolibrary.org/obo/CMO_0000508 Hemoglobin Measurement The ratio of carboxyhemoglobin compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. http://purl.obolibrary.org/obo/SCDO_1000729 Increased Methemoglobin http://purl.obolibrary.org/obo/HP_0020063 Increased Hemoglobin Concentration An elevated concentration in the blood of methemoglobin, which is the ferric (Fe(3+)) form of hemoglobin. http://purl.obolibrary.org/obo/SCDO_1000730 Site Participant Number http://purl.obolibrary.org/obo/NCIT_C69256 Subject Unique Identifier A site-specific unique identifier assigned to a study participant by the data collectors at the data collection site. http://purl.obolibrary.org/obo/SCDO_1000731 SCD Passport Number http://purl.obolibrary.org/obo/NCIT_C69256 Subject Unique Identifier A unique identifier provided on SCD passports. http://purl.obolibrary.org/obo/SCDO_1000732 SickleInAfrica CDE - SickleInAfrica Participant Number http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the unique identifier that was assigned to the study participant's data when it was registered in the SickleInAfrica data registry. http://purl.obolibrary.org/obo/SCDO_1000734 SickleInAfrica CDE - Age In Months Calculation http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that calculates the respondent's age in months, using the visit date and birth date collected by other core data elements. http://purl.obolibrary.org/obo/SCDO_1000738 SickleInAfrica Core Data Element Instrument http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A data capture instrument designed and applied by the Sickle In Africa Consortium. http://purl.obolibrary.org/obo/SCDO_1000751 SickleInAfrica CDE - Total Hemoglobin Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the total concentration of hemoglobin in the respondent's blood. http://purl.obolibrary.org/obo/SCDO_1000753 Body Temperature - Oral Measurement Assay http://purl.obolibrary.org/obo/OBI_0002140 Temperature Measurement Assay An assay to determine the body temperature of an evaluant using an oral thermometer. http://purl.obolibrary.org/obo/SCDO_1000754 Body Temperature - Tympanic Measurement Assay http://purl.obolibrary.org/obo/OBI_0002140 Temperature Measurement Assay An assay to determine the body temperature of an evaluant using a tympanic (i.e. ear) thermometer. http://purl.obolibrary.org/obo/SCDO_1000755 Oral Temperature http://purl.obolibrary.org/obo/CMO_0000015 Body Temperature The temperature of the oral cavity. http://purl.obolibrary.org/obo/SCDO_1000756 Tympanic Temperature http://purl.obolibrary.org/obo/CMO_0000015 Body Temperature The temperature of the external acoustic tube. http://purl.obolibrary.org/obo/SCDO_1000757 Rectal Temperature http://purl.obolibrary.org/obo/CMO_0000015 Body Temperature The temperature of the lumen of the rectum. http://purl.obolibrary.org/obo/SCDO_1000758 Axillary Temperature http://purl.obolibrary.org/obo/CMO_0000015 Body Temperature The temperature of the axillary fossa. http://purl.obolibrary.org/obo/SCDO_1000759 SickleInAfrica CDE - Type of Temperature Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the type of body temperature that was taken for the respondent. http://purl.obolibrary.org/obo/SCDO_1000766 Year 1900 - Current http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer An answer to a question where the answer is a year between 1900 and the current year, selected from a provided list of years. http://purl.obolibrary.org/obo/SCDO_1000767 Month 1 - 12 http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer An answer to a question where the answer is a month between 1 - 12, selected form a list of months. http://purl.obolibrary.org/obo/SCDO_1000769 Basique http://purl.obolibrary.org/obo/SCDO_1000577 Type of SCD Test Waiting for description for this. http://purl.obolibrary.org/obo/SCDO_1000774 D57.03 Hb-SS disease with cerebral vascular involvement http://purl.obolibrary.org/obo/SCDO_0000312 D57.0 Hb-SS disease with crisis - http://purl.obolibrary.org/obo/SCDO_1000775 D57.09 Hb-SS disease with crisis with other specified complication http://purl.obolibrary.org/obo/SCDO_0000312 D57.0 Hb-SS disease with crisis - http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype When there is no deviation from the normal concentration of hemoglobin in the blood. http://purl.obolibrary.org/obo/SCDO_1000784 Absent Hemoglobin S http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration A lack of production of hemoglobin S. http://purl.obolibrary.org/obo/SCDO_1000786 D57.213 Sickle-cell/Hb-C disease with cerebral vascular involvement http://purl.obolibrary.org/obo/SCDO_0000318 D57.21 Sickle-cell/Hb-C disease with crisis - http://purl.obolibrary.org/obo/SCDO_1000787 D57.218 Sickle-cell/Hb-C disease with crisis with other specified complication http://purl.obolibrary.org/obo/SCDO_0000318 D57.21 Sickle-cell/Hb-C disease with crisis - http://purl.obolibrary.org/obo/SCDO_1000788 D57.413 Sickle-cell thalassemia, unspecified, with cerebral vascular involvement http://purl.obolibrary.org/obo/SCDO_0000325 D57.41 Sickle-cell thalassemia, unspecified, with crisis - http://purl.obolibrary.org/obo/SCDO_1000789 D57.418 Sickle-cell thalassemia, unspecified, with crisis with other specified complication http://purl.obolibrary.org/obo/SCDO_0000325 D57.41 Sickle-cell thalassemia, unspecified, with crisis - http://purl.obolibrary.org/obo/SCDO_1000790 D57.42 Sickle-cell thalassemia beta zero without crisis http://purl.obolibrary.org/obo/SCDO_0000323 D57.4 Sickle-cell thalassemia - http://purl.obolibrary.org/obo/SCDO_1000791 D57.43 Sickle-cell thalassemia beta zero with crisis http://purl.obolibrary.org/obo/SCDO_0000323 D57.4 Sickle-cell thalassemia - http://purl.obolibrary.org/obo/SCDO_1000792 D57.431 Sickle-cell thalassemia beta zero with acute chest syndrome http://purl.obolibrary.org/obo/SCDO_1000791 D57.43 Sickle-cell thalassemia beta zero with crisis - http://purl.obolibrary.org/obo/SCDO_1000793 D57.432 Sickle-cell thalassemia beta zero with splenic sequestration http://purl.obolibrary.org/obo/SCDO_1000791 D57.43 Sickle-cell thalassemia beta zero with crisis - http://purl.obolibrary.org/obo/SCDO_1000794 D57.433 Sickle-cell thalassemia beta zero with cerebral vascular involvement http://purl.obolibrary.org/obo/SCDO_1000791 D57.43 Sickle-cell thalassemia beta zero with crisis - http://purl.obolibrary.org/obo/SCDO_1000795 D57.438 Sickle-cell thalassemia beta zero with crisis with other specified complication http://purl.obolibrary.org/obo/SCDO_1000791 D57.43 Sickle-cell thalassemia beta zero with crisis - http://purl.obolibrary.org/obo/SCDO_1000796 D57.439 Sickle-cell thalassemia beta zero with crisis, unspecified http://purl.obolibrary.org/obo/SCDO_1000791 D57.43 Sickle-cell thalassemia beta zero with crisis - http://purl.obolibrary.org/obo/SCDO_1000797 D57.44 Sickle-cell thalassemia beta plus without crisis http://purl.obolibrary.org/obo/SCDO_0000323 D57.4 Sickle-cell thalassemia - http://purl.obolibrary.org/obo/SCDO_1000798 D57.45 Sickle-cell thalassemia beta plus with crisis http://purl.obolibrary.org/obo/SCDO_0000323 D57.4 Sickle-cell thalassemia - http://purl.obolibrary.org/obo/SCDO_1000799 D57.451 Sickle-cell thalassemia beta plus with acute chest syndrome http://purl.obolibrary.org/obo/SCDO_1000798 D57.45 Sickle-cell thalassemia beta plus with crisis - http://purl.obolibrary.org/obo/SCDO_1000800 D57.452 Sickle-cell thalassemia beta plus with splenic sequestration http://purl.obolibrary.org/obo/SCDO_1000798 D57.45 Sickle-cell thalassemia beta plus with crisis - http://purl.obolibrary.org/obo/SCDO_1000801 D57.453 Sickle-cell thalassemia beta plus with cerebral vascular involvement http://purl.obolibrary.org/obo/SCDO_1000798 D57.45 Sickle-cell thalassemia beta plus with crisis - http://purl.obolibrary.org/obo/SCDO_1000802 D57.458 Sickle-cell thalassemia beta plus with crisis with other specified complication http://purl.obolibrary.org/obo/SCDO_1000798 D57.45 Sickle-cell thalassemia beta plus with crisis - http://purl.obolibrary.org/obo/SCDO_1000803 D57.459 Sickle-cell thalassemia beta plus with crisis, unspecified http://purl.obolibrary.org/obo/SCDO_1000798 D57.45 Sickle-cell thalassemia beta plus with crisis - http://purl.obolibrary.org/obo/SCDO_1000804 D57.818 Other sickle-cell disorders with crisis with other specified complication http://purl.obolibrary.org/obo/SCDO_0000331 D57.81 Other sickle-cell disorders with crisis - http://purl.obolibrary.org/obo/SCDO_1000805 D57.813 Other sickle-cell disorders with cerebral vascular involvement http://purl.obolibrary.org/obo/SCDO_0000331 D57.81 Other sickle-cell disorders with crisis - http://purl.obolibrary.org/obo/SCDO_1000806 Absent Hemoglobin C http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration A lack of production of hemoglobin C. http://purl.obolibrary.org/obo/SCDO_1000807 Increased Carboxyhemoglobin http://purl.obolibrary.org/obo/HP_0020063 Increased Hemoglobin Concentration An elevated concentration in the blood of carboxyhemoglobin, which is the form of hemoglobin where the heme group has formed a stable complex with carbon monoxide (CO). http://purl.obolibrary.org/obo/SCDO_1000808 Decreased Arterial Oxygen Saturation http://purl.obolibrary.org/obo/MP_0002329 Abnormal Blood Gas Level An abnormal reduction in the amount of oxygen bound to hemoglobin in arterial blood expressed as a percentage of the maximal binding capacity. http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype http://purl.obolibrary.org/obo/MP_0005376 Metabolism/Homeostasis Phenotype A phenotype of the body's metabolism or homeostasis that is not clinically abnormal. http://purl.obolibrary.org/obo/SCDO_1000813 Normal Arterial Oxygen Saturation http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the degree to which oxygen is bound to hemoglobin in arterial blood is in the normal range. http://purl.obolibrary.org/obo/SCDO_1000814 Normal Carboxyhemoglobin Level http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration When the level of carboxyhemoglobin detected in a sample of blood falls in the normal range for carboxyhemoglobin. http://purl.obolibrary.org/obo/SCDO_1000815 Normal Methemoglobin Level http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration When the level of methemoglobin detected in a sample of blood falls in the normal range for methemoglobin. http://purl.obolibrary.org/obo/SCDO_1000816 Absent Hemoglobin D-Punjab http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration A lack of production of hemoglobin D-Punjab. http://purl.obolibrary.org/obo/SCDO_1000817 Absent Hemoglobin G-Philadelphia http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration A lack of production of hemoglobin G-Philadelphia. http://purl.obolibrary.org/obo/SCDO_1000818 Absent Hemoglobin O-Arab http://purl.obolibrary.org/obo/SCDO_1000783 Normal Hemoglobin Concentration A lack of production of hemoglobin O-Arab. http://purl.obolibrary.org/obo/SCDO_1000819 Decreased Partial Pressure of Oxygen http://purl.obolibrary.org/obo/MP_0002329 Abnormal Blood Gas Level An abnormal reduction in the pressure exerted by oxygen dissolved in the blood. http://purl.obolibrary.org/obo/SCDO_1000820 Hematopoietic System Phenotype http://purl.obolibrary.org/obo/OGMS_0000023 Phenotype The observable morphological and physiological characteristics of the human blood cells or the organs associated with the development and formation of blood cells that are manifested through development and lifespan. http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype http://purl.obolibrary.org/obo/SCDO_1000820 Hematopoietic System Phenotype A phenotype of the body's hematopoietic system that is not clinically abnormal. http://purl.obolibrary.org/obo/SCDO_1000822 Normal Red Blood Cell Count http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype When the number of red blood cells in a specified volume of blood falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000823 Normal White Blood Cell Count http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype When the number of white blood cells in a specified volume of blood falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000824 Normal Platelet Count http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype When the number of platelets in a specified volume of blood falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000825 Normal Mean Corpuscular Volume http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype When the average volume or size of a single red blood cell falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000827 Normal Mean Corpuscular Hemoglobin Concentration http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype When the amount of hemoglobin in a given volume of packed red blood cells falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000828 Normal Red Blood Cell Distribution Width http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype When the range of variation of red blood cell (RBC) volume falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000829 Normal Serum Creatinine http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the level of serum creatinine is in the normal range. http://purl.obolibrary.org/obo/SCDO_1000830 Normal Serum Alanine Aminotransferase http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the level of serum alanine aminotransferase is in the normal range. http://purl.obolibrary.org/obo/SCDO_1000831 Normal Serum Aspartate Aminotransferase http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the level of serum aspartate aminotransferase is in the normal range. http://purl.obolibrary.org/obo/SCDO_1000832 Normal Serum Alkaline Phosphatase http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the level of serum alkaline aminotransferase is in the normal range. http://purl.obolibrary.org/obo/SCDO_1000833 Normal Lactate Dehydrogenase Level http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the level of the enzyme lactate dehydrogenase in the serum is in the normal range. http://purl.obolibrary.org/obo/SCDO_1000835 Normal Total Serum Bilirubin http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the total bilirubin level in the serum is in the normal range. http://purl.obolibrary.org/obo/SCDO_1000836 Normal Urine Albumin Concentration http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the concentration of urinary albumin falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000837 Normal Urine Creatinine Level http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the concentration of urine creatinine falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000838 Normal Partial Pressure of Oxygen http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the pressure exerted by oxygen dissolved in the blood falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000840 Decreased Partial Pressure of Carbon Dioxide http://purl.obolibrary.org/obo/MP_0002329 Abnormal Blood Gas Level An abnormal reduction in the pressure exerted by carbon dioxide dissolved in the blood. http://purl.obolibrary.org/obo/SCDO_1000841 Increased Partial Pressure of Carbon Dioxide http://purl.obolibrary.org/obo/MP_0002329 Abnormal Blood Gas Level An abnormal increase in the pressure exerted by carbon dioxide dissolved in the blood. http://purl.obolibrary.org/obo/SCDO_1000842 Hypocapnia http://purl.obolibrary.org/obo/MP_0002329 Abnormal Blood Gas Level Clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood. http://purl.obolibrary.org/obo/SCDO_1000843 Hypercapnia http://purl.obolibrary.org/obo/MP_0002329 Abnormal Blood Gas Level A clinical manifestation of abnormal increase in the amount of carbon dioxide in arterial blood. http://purl.obolibrary.org/obo/SCDO_1000844 Hemoglobin S Present http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration When the abnormal hemoglobin, hemoglobin S (HbS), has been detected in a blood sample. http://purl.obolibrary.org/obo/SCDO_1000847 SickleInAfrica CDE - Type of Visit Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the type of visit undertaken by a patient. http://purl.obolibrary.org/obo/SCDO_1000849 Acute Clinical Visit http://purl.obolibrary.org/obo/NCIT_C103165 Subject Visit Type A clinical visit occuring because of an acute (severe with sudden onset) health condition. http://purl.obolibrary.org/obo/SCDO_1000850 SickleInAfrica CDE - Medical Record Number Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the patient's medical record number. http://purl.obolibrary.org/obo/SCDO_1000854 SickleInAfrica CDE - Hospital Name Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the name of the hospital that a patient visited. http://purl.obolibrary.org/obo/SCDO_1000855 Hospital Name http://purl.obolibrary.org/obo/EUPATH_0000310 Information on Observation Details The name of the hospital visited by a patient. http://purl.obolibrary.org/obo/SCDO_1000856 SickleInAfrica CDE - First Name Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records a respondent's first name. http://purl.obolibrary.org/obo/SCDO_1000857 SickleInAfrica CDE - Middle Name Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records a respondent's middle name. http://purl.obolibrary.org/obo/SCDO_1000858 First Name http://purl.obolibrary.org/obo/NCIT_C25191 Person Name A first name is a name that denotes a specific individual between members of a group of individuals, whose members usually share the same surname. http://purl.obolibrary.org/obo/SCDO_1000860 Middle Name http://purl.obolibrary.org/obo/NCIT_C25191 Person Name A middle name is a name assigned to an individual that is not the first or last name. http://purl.obolibrary.org/obo/SCDO_1000861 Last Name http://purl.obolibrary.org/obo/NCIT_C25191 Person Name A last name (surname) is a name added to a given name and is part of a personal name and is often the family name. http://purl.obolibrary.org/obo/SCDO_1000862 SickleInAfrica CDE - Last Name Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records a respondent's last name. http://purl.obolibrary.org/obo/SCDO_1000863 SickleInAfrica CDE - Height Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records a respondent's height. http://purl.obolibrary.org/obo/SCDO_1000866 SickleInAfrica CDE - Weight Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records a respondent's measured weight. http://purl.obolibrary.org/obo/SCDO_1000868 SickleInAfrica CDE - Ethnic Group Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the ethnic group to which a respondent belongs. http://purl.obolibrary.org/obo/SCDO_1000869 SickleInAfrica CDE - Religion Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the religion of a respondent. http://purl.obolibrary.org/obo/SCDO_1000870 SickleInAfrica CDE - Region Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the region in which the respondent lives. http://purl.obolibrary.org/obo/SCDO_1000871 Street Name http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A street name is the token given to identify a particular street. http://purl.obolibrary.org/obo/SCDO_1000872 SickleInAfrica CDE - Street Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the name of the street in which the respondent lives. http://purl.obolibrary.org/obo/SCDO_1000873 SickleInAfrica CDE - Nearest Landmark Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the landmark that is nearest to where the participant lives. http://purl.obolibrary.org/obo/SCDO_1000874 Nearest Geographical Landmark http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A recognizable natural or artificial geographic feature, used for navigation (often visible from long distances), that is nearest to where the participant lives. http://purl.obolibrary.org/obo/SCDO_1000875 Next of Kin Name http://purl.obolibrary.org/obo/NCIT_C25191 Person Name The name of a respondent's next of kin. http://purl.obolibrary.org/obo/SCDO_1000876 SickleInAfrica CDE - Telephone 1 Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the participant's primary telephone number. http://purl.obolibrary.org/obo/SCDO_1000877 SickleInAfrica CDE - Telephone 2 Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the participant's secondary telephone number. http://purl.obolibrary.org/obo/SCDO_1000878 SickleInAfrica CDE - Next of Kin Name Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the name of the participant's next of kin. http://purl.obolibrary.org/obo/SCDO_1000879 SickleInAfrica CDE - Next of Kin Number Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the telephone number of the participant's next of kin. http://purl.obolibrary.org/obo/SCDO_1000880 SickleInAfrica CDE - Relationship to Participant Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the participant's next of kin's relationship to the participant. http://purl.obolibrary.org/obo/SCDO_1000882 Telephone Number 1 http://purl.obolibrary.org/obo/NCIT_C40978 Telephone Number A respondent's primary telephone number. http://purl.obolibrary.org/obo/SCDO_1000883 Telephone Number 2 http://purl.obolibrary.org/obo/NCIT_C40978 Telephone Number A respondent's secondary telephone number. http://purl.obolibrary.org/obo/SCDO_1000884 Next of Kin Telephone Number http://purl.obolibrary.org/obo/NCIT_C40978 Telephone Number The telephone number of a respondent's next of kin. http://purl.obolibrary.org/obo/SCDO_1000885 Next of Kin Relationship to Participant http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The relationship that the participant's next of kin has with the participant. http://purl.obolibrary.org/obo/SCDO_1000886 SickleInAfrica CDE - Blood Transfusion Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether the participant was given a blood transfusion. http://purl.obolibrary.org/obo/SCDO_1000887 SickleInAfrica CDE - Units Transfused Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records the number of units of blood that a participant was given during a blood transfusion. http://purl.obolibrary.org/obo/SCDO_1000888 Number of Units Transfused http://purl.obolibrary.org/obo/SCDO_1000590 SCD Management Details The number of units of blood that a patient received during a blood transfusion. http://purl.obolibrary.org/obo/SCDO_1000889 SickleInAfrica CDE - Difficulty in Breathing Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether a participant has difficulty in breathing. http://purl.obolibrary.org/obo/SCDO_1000890 SickleInAfrica CDE - Systolic Blood Pressure Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records a participant's systolic blood pressure. http://purl.obolibrary.org/obo/SCDO_1000891 SickleInAfrica CDE - Diastolic Blood Pressure Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records a participant's diastolic blood pressure. http://purl.obolibrary.org/obo/SCDO_1000894 SickleInAfrica CDE - Priapism Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether a participant has priapism. http://purl.obolibrary.org/obo/SCDO_1000895 SickleInAfrica CDE - Chest Pain Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether a participant has chest pain. http://purl.obolibrary.org/obo/SCDO_1000896 SickleInAfrica CDE - Anaemia Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether a participant has anaemia. http://purl.obolibrary.org/obo/SCDO_1000897 SickleInAfrica CDE - Jaundice Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that records whether a participant has jaundice. http://purl.obolibrary.org/obo/SCDO_1000898 SickleInAfrica CDE - Urea Question http://purl.obolibrary.org/obo/SCDO_1000509 SickleInAfrica Core Data Element The Sickle in Africa core data element that collects the concentration of urea in the respondent's blood. http://purl.obolibrary.org/obo/SCDO_1000900 First Visit http://purl.obolibrary.org/obo/NCIT_C103165 Subject Visit Type A clinical visit that is the patient's first clinical visit. http://purl.obolibrary.org/obo/SCDO_1000901 Follow-Up Visit http://purl.obolibrary.org/obo/NCIT_C103165 Subject Visit Type A clinical visit that is a follow-up for a previous visit. http://purl.obolibrary.org/obo/CHEBI_35482 Opioid http://purl.obolibrary.org/obo/SCDO_0000050 Analgesic A narcotic or opioid substance, synthetic or semisynthetic agent producing profound analgesia, drowsiness, and changes in mood. http://purl.obolibrary.org/obo/CHEBI_60809 Adjuvant http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself. http://purl.obolibrary.org/obo/CHEBI_23888 Drug http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. http://purl.obolibrary.org/obo/CHEBI_42797 Gabapentin http://purl.obolibrary.org/obo/CHEBI_23888 Drug A gamma-amino acid that is cyclohexane substituted at position 1 by aminomethyl and carboxymethyl groups. Used for treatment of neuropathic pain and restless legs syndrome. http://purl.obolibrary.org/obo/CHEBI_6909 Metronidazole http://purl.obolibrary.org/obo/NCIT_C258 Antibiotic A member of the class of imidazoles substituted at C-1, -2 and -5 with 2-hydroxyethyl, nitro and methyl groups respectively. It has activity against anaerobic bacteria and protozoa, and has a radiosensitising effect on hypoxic tumour cells. It may be given by mouth in tablets, or as the benzoate in an oral suspension. The hydrochloride salt can be used in intravenous infusions. Metronidazole is a prodrug and is selective for anaerobic bacteria due to their ability to intracellularly reduce the nitro group of metronidazole to give nitroso-containing intermediates. These can covalently bind to DNA, disrupting its helical structure, inducing DNA strand breaks and inhibiting bacterial nucleic acid synthesis, ultimately resulting in bacterial cell death. http://purl.obolibrary.org/obo/CHEBI_7852 Oxycodone http://purl.obolibrary.org/obo/CHEBI_35482 Opioid A semisynthetic derivative of codeine that acts as a narcotic analgesic more potent and addicting than codeine. http://purl.obolibrary.org/obo/DOID_0050731 Vitamin B12 Deficiency http://purl.obolibrary.org/obo/SCDO_1000261 Avitaminosis A vitamin metabolic disorder that results from low blood levels of vitamin B12. http://purl.obolibrary.org/obo/DOID_0060181 Ischemic Cholitis http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System A colitis caused by inadequate blood supply to the colon. http://purl.obolibrary.org/obo/DOID_1188 Mononeuropathy http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. http://purl.obolibrary.org/obo/DOID_1584 Acute Chest Syndrome http://purl.obolibrary.org/obo/SCDO_1000000 Acute Phenotype A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. http://purl.obolibrary.org/obo/DOID_1826 Epilepsy http://purl.obolibrary.org/obo/HP_0000708 Behavioural Abnormality A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. http://purl.obolibrary.org/obo/DOID_4 Disease http://purl.obolibrary.org/obo/SCDO_0001000 SCDO A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/HP_0000132 Menorrhagia http://purl.obolibrary.org/obo/HP_0012243 Abnormal Reproductive System Morphology Prolonged and/or excessive menses at regular intervals in excess of 80 ml or lasting longer than 7 days. http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the Face http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the face. http://purl.obolibrary.org/obo/HP_0000618 Blindness http://purl.obolibrary.org/obo/HP_0000505 Visual Impairment Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation. http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the Nervous System http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Any abnormality of the nervous system. http://purl.obolibrary.org/obo/HP_0000819 Diabetes Mellitus http://purl.obolibrary.org/obo/SCDO_0000267 Comorbid Disease A group of abnormalities characterized by hyperglycemia and glucose intolerance. http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype An abnormality of the skeletal system. http://purl.obolibrary.org/obo/HP_0000952 Jaundice http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. http://purl.obolibrary.org/obo/HP_0000962 Hyperkeratosis http://purl.obolibrary.org/obo/HP_0011121 Abnormality of Skin Morphology Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. http://purl.obolibrary.org/obo/HP_0000967 Petechiae http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the Vasculature Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. http://purl.obolibrary.org/obo/HP_0000969 Edema http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. http://purl.obolibrary.org/obo/HP_0000999 Pyoderma http://purl.obolibrary.org/obo/HP_0011122 Abnormality of Skin Physiology Any manifestation of a skin disease associated with the production of pus. http://purl.obolibrary.org/obo/HP_0001022 Albinism http://purl.obolibrary.org/obo/HP_0001010 Hypopigmentation An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). http://purl.obolibrary.org/obo/HP_0001025 Urticaria http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the Vasculature Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. http://purl.obolibrary.org/obo/HP_0001250 Seizure http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. http://purl.obolibrary.org/obo/HP_0001254 Lethargy http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. http://purl.obolibrary.org/obo/HP_0001260 Dysarthria http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. http://purl.obolibrary.org/obo/HP_0001269 Hemiparesis http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. http://purl.obolibrary.org/obo/HP_0001287 Meningitis http://purl.obolibrary.org/obo/IDO_0000586 Infection Inflammation of the meninges. http://purl.obolibrary.org/obo/HP_0001289 Confusion http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Lack of clarity and coherence of thought, perception, understanding, or action. http://purl.obolibrary.org/obo/HP_0001369 Arthritis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System Inflammation of a joint. http://purl.obolibrary.org/obo/HP_0001370 Rheumatoid Arthritis http://purl.obolibrary.org/obo/HP_0001369 Arthritis An autoimmune response that primarily affects connective tissue; it also results in chronic inflammation of the joints, especially of the hands and feet and may also cause inflammation of the tissue around the joints, as well as other organs in the body. http://purl.obolibrary.org/obo/HP_0001433 Hepatosplenomegaly http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the Spleen Simultaneous enlargement of the liver and spleen. http://purl.obolibrary.org/obo/HP_0001508 Failure to Thrive http://purl.obolibrary.org/obo/HP_0001507 Growth Abnormality Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. http://purl.obolibrary.org/obo/HP_0001513 Obesity http://purl.obolibrary.org/obo/HP_0001507 Growth Abnormality Body weight that is grossly above the acceptable or desirable weight, usually due to accumulation of excess fats in the body. The standards may vary with age, sex, genetic or cultural background. In the body mass index (BMI), a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese. http://purl.obolibrary.org/obo/HP_0001744 Splenomegaly http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the Spleen Abnormal increased size of the spleen. http://purl.obolibrary.org/obo/HP_0001789 Hydrops Fetalis http://purl.obolibrary.org/obo/HP_0000969 Edema The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. http://purl.obolibrary.org/obo/HP_0001873 Thrombocytopenia http://purl.obolibrary.org/obo/HP_0011873 Abnormal Platelet Count A reduction in the number of circulating thrombocytes. http://purl.obolibrary.org/obo/HP_0001882 Leukopenia http://purl.obolibrary.org/obo/HP_0011893 Abnormal Leukocyte Count An abnormal decreased number of leukocytes in the blood. http://purl.obolibrary.org/obo/HP_0001889 Megaloblastic Anemia http://purl.obolibrary.org/obo/HP_0001903 Anemia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). http://purl.obolibrary.org/obo/HP_0001903 Anemia http://purl.obolibrary.org/obo/HP_0001877 Abnormal Erythrocyte Morphology A reduction in erythrocytes volume or hemoglobin concentration. http://purl.obolibrary.org/obo/HP_0001974 Leukocytosis http://purl.obolibrary.org/obo/HP_0011893 Abnormal Leukocyte Count An abnormal increase in the number of leukocytes in the blood. http://purl.obolibrary.org/obo/HP_0001977 Abnormal Thrombosis http://purl.obolibrary.org/obo/HP_0001871 Abnormality of Blood and Blood-Forming Tissues Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). http://purl.obolibrary.org/obo/HP_0002090 Pneumonia http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the Immune System Inflammation of any part of the lung parenchyma. http://purl.obolibrary.org/obo/HP_0002098 Respiratory Distress http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. http://purl.obolibrary.org/obo/HP_0002149 Hyperuricemia http://purl.obolibrary.org/obo/HP_0002157 Azotaemia An abnormally high level of uric acid in the blood. http://purl.obolibrary.org/obo/HP_0002164 Nail Dysplasia http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the Integument The presence of developmental dysplasia of the nail. http://purl.obolibrary.org/obo/HP_0002204 Pulmonary Embolism http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. http://purl.obolibrary.org/obo/HP_0002650 Scoliosis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System The presence of an abnormal lateral curvature of the spine. http://purl.obolibrary.org/obo/HP_0002653 Bone Pain http://purl.obolibrary.org/obo/SCDO_0000851 Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. http://purl.obolibrary.org/obo/HP_0002725 Systemic Lupus Erythematosus http://purl.obolibrary.org/obo/SCDO_0000267 Comorbid Disease A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. http://purl.obolibrary.org/obo/HP_0002829 Arthralgia http://purl.obolibrary.org/obo/SCDO_0000851 Pain Joint pain. http://purl.obolibrary.org/obo/HP_0003418 Back Pain http://purl.obolibrary.org/obo/SCDO_0000851 Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. http://purl.obolibrary.org/obo/HP_0003470 Paralysis http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Motor paralysis is often accompanied by an impairment in the facility of movement. http://purl.obolibrary.org/obo/HP_0010885 Osteonecrosis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. http://purl.obolibrary.org/obo/HP_0011001 Increased Bone Mineral Density http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. http://purl.obolibrary.org/obo/HP_0011123 Skin Inflammation http://purl.obolibrary.org/obo/HP_0011122 Abnormality of Skin Physiology The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. http://purl.obolibrary.org/obo/HP_0100614 Myositis http://purl.obolibrary.org/obo/SCDO_1000268 Abnormality of the Musculature A general term for inflammation of the muscles without respect to the underlying cause. http://purl.obolibrary.org/obo/HP_0100774 Hyperostosis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the Skeletal System Excessive growth or abnormal thickening of bone tissue. http://purl.obolibrary.org/obo/HP_0100806 Sepsis http://purl.obolibrary.org/obo/IDO_0000586 Infection Severe systemic inflammatory response to infection. http://purl.obolibrary.org/obo/ExO_0000048 Built Environment http://purl.obolibrary.org/obo/SCDO_0000897 Physical Environment Human-made surroundings that provide the setting for human activity, ranging in scale from personal shelter and buildings to neighborhoods and cite, and can often include their supporting infrastructure, such as water supply or energy networks. http://purl.obolibrary.org/obo/NCIT_C26702 Ataxia http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology Lack of coordination of muscle movements resulting in the impairment or inability to perform voluntary activities. Causes include peripheral nerve disorders, posterior column injuries, cerebral and cerebellar disorders, basal ganglia disorders, and thalamic disorders. http://purl.obolibrary.org/obo/NCIT_C28407 National Origin http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor System of classification based on nation from which a person originates, regardless of the nation in which he/she currently resides. http://purl.obolibrary.org/obo/NCIT_C28516 Sickle Cell Dactylitis http://purl.obolibrary.org/obo/SCDO_0001023 SCD Related Pain A severe acute inflammatory response affecting the hands and feet of individuals with sickle cell disease, sickle cell-hemoglobin C disease or sickle cell-beta-thalassemia. It is caused by vaso-occlusive episodes leading to ischemia and finally infarction of the distal portions of the extremities. Clinical signs of pain, swelling and tenderness of digits usually begin in early childhood and may be the initial manifestations of sickle cell anemia. Clinical course is self-limited with instances typically lasting a few weeks and occurring during sickling crises. An initial episode before the age of 1 strongly correlates with a more severe disease course. http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements http://purl.obolibrary.org/obo/SCDO_0006339 Research Requirements indicate additional conditions set for use of data. http://purl.obolibrary.org/obo/CHEBI_35475 Non-Steroidal Anti-Inflammatory Drug http://purl.obolibrary.org/obo/SCDO_0000057 Anti-Inflammatory Agent An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. http://purl.obolibrary.org/obo/HP_0004727 Impaired Renal Concentrating Ability http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney A defect in the ability to concentrate the urine. http://purl.obolibrary.org/obo/HP_0004756 Ventricular Tachycardia http://purl.obolibrary.org/obo/SCDO_0001851 Tachycardia A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). http://purl.obolibrary.org/obo/HP_0004825 Increased Hemoglobin Oxygen Affinity http://purl.obolibrary.org/obo/HP_0020054 Abnormal Erythrocyte Physiology An abnormal increase in the binding affinity of hemoglobin for oxygen. http://purl.obolibrary.org/obo/HP_0004870 Chronic Hemolytic Anemia http://purl.obolibrary.org/obo/SCDO_0005167 Chronic Anemia A chronic form of hemolytic anemia. http://purl.obolibrary.org/obo/HP_0005162 Left Ventricular Dysfunction http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. http://purl.obolibrary.org/obo/HP_0005268 Spontaneous Abortion http://purl.obolibrary.org/obo/NCIT_C34941 Pregnancy Complication A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. http://purl.obolibrary.org/obo/HP_0005305 Cerebral Venous Thrombosis http://purl.obolibrary.org/obo/HP_0001977 Abnormal Thrombosis Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. http://purl.obolibrary.org/obo/HP_0005318 Cerebral Vasculitis http://purl.obolibrary.org/obo/HP_0002060 Abnormality of the Cerebrum Inflammation of the blood vessels within the brain. http://purl.obolibrary.org/obo/HP_0005518 Increased Mean Corpuscular Volume http://purl.obolibrary.org/obo/HP_0025065 Abnormal Mean Corpuscular Volume Larger than normal size of erythrocytes. Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits. http://purl.obolibrary.org/obo/HP_0005560 Imbalanced Hemoglobin Synthesis http://purl.obolibrary.org/obo/SCDO_1000060 SCD Molecular Phenotype Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. http://purl.obolibrary.org/obo/HP_0006689 Bacterial Endocarditis http://purl.obolibrary.org/obo/NCIT_C2890 Bacterial Infection A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. http://purl.obolibrary.org/obo/HP_0007018 Attention Deficit Hyperactivity Disorder http://purl.obolibrary.org/obo/HP_0000708 Behavioural Abnormality Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. http://purl.obolibrary.org/obo/HP_0007340 Leg Weakness http://purl.obolibrary.org/obo/HP_0025142 Constitutional Symptom Weakness of the muscles of the legs. http://purl.obolibrary.org/obo/HP_0007902 Vitreous Hemorrhage http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the Eye Bleeding within the vitreous compartment of the eye. http://purl.obolibrary.org/obo/HP_0008245 Secondary Hypothyroidism http://purl.obolibrary.org/obo/HP_0000821 Hypothyroidism A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. http://purl.obolibrary.org/obo/HP_0008682 Acute Tubular Necrosis http://purl.obolibrary.org/obo/SCDO_1000000 Acute Phenotype Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. http://purl.obolibrary.org/obo/HP_0009045 Exercise-Induced Rhabdomyolysis http://purl.obolibrary.org/obo/SCDO_1000260 Symptom Induced by Strenuous Exercise Rhabdomyolysis induced by exercise. http://purl.obolibrary.org/obo/HP_0011106 Hypovolemia http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology A decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. http://purl.obolibrary.org/obo/HP_0011410 Caesarian Section http://purl.obolibrary.org/obo/HP_0001787 Abnormal Delivery Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). http://purl.obolibrary.org/obo/HP_0011413 Shoulder Dystocia http://purl.obolibrary.org/obo/HP_0001787 Abnormal Delivery Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. http://purl.obolibrary.org/obo/HP_0011695 Cerebellar Hemorrhage http://purl.obolibrary.org/obo/HP_0002170 Intracranial Hemorrhage Hemorrhage into the parenchyma of the cerebellum. http://purl.obolibrary.org/obo/HP_0011856 Pica http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. http://purl.obolibrary.org/obo/HP_0011868 Sciatica http://purl.obolibrary.org/obo/HP_0003418 Back Pain Pain in the lower back and hip radiating in the distribution of the sciatic nerve. http://purl.obolibrary.org/obo/HP_0011886 Hyphema http://purl.obolibrary.org/obo/HP_0011025 Abnormal Cardiovascular System Physiology Bleeding in the anterior chamber of the eye. http://purl.obolibrary.org/obo/HP_0011897 Neutrophilia http://purl.obolibrary.org/obo/HP_0011991 Abnormal Neutrophil Count Increased number of neutrophils circulating in blood. http://purl.obolibrary.org/obo/HP_0011904 Increased Hemoglobin F http://purl.obolibrary.org/obo/HP_0020063 Increased Hemoglobin Concentration Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. http://purl.obolibrary.org/obo/HP_0011906 Reduced Beta/Alpha Synthesis Ratio http://purl.obolibrary.org/obo/HP_0005560 Imbalanced Hemoglobin Synthesis A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. http://purl.obolibrary.org/obo/HP_0011907 Reduced Alpha/Beta Synthesis Ratio http://purl.obolibrary.org/obo/HP_0005560 Imbalanced Hemoglobin Synthesis A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. http://purl.obolibrary.org/obo/HP_0011950 Bronchiolitis http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System Inflammation of the bronchioles. http://purl.obolibrary.org/obo/HP_0012101 Decreased Serum Creatinine http://purl.obolibrary.org/obo/HP_0012100 Abnormal Circulating Creatinine Level An abnormally reduced amount of creatinine in the blood. http://purl.obolibrary.org/obo/HP_0012203 Onychomycosis http://purl.obolibrary.org/obo/NCIT_C3245 Fungal Infection A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. http://purl.obolibrary.org/obo/HP_0012229 Cerebrospinal Fluid Pleocytosis http://purl.obolibrary.org/obo/HP_0002060 Abnormality of the Cerebrum An increased white blood cell count in the cerebrospinal fluid. http://purl.obolibrary.org/obo/HP_0012282 Morbilliform Rash http://purl.obolibrary.org/obo/HP_0011122 Abnormality of Skin Physiology An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. http://purl.obolibrary.org/obo/HP_0012379 Abnormal Enzyme/Coenzyme Activity http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. http://purl.obolibrary.org/obo/HP_0012418 Hypoxemia http://purl.obolibrary.org/obo/MP_0002329 Abnormal Blood Gas Level An abnormally low level of blood oxygen. http://purl.obolibrary.org/obo/HP_0012465 Elevated Hepatic Iron Concentration http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the Liver An increased level of iron in liver tissues. http://purl.obolibrary.org/obo/HP_0012532 Chronic Pain http://purl.obolibrary.org/obo/SCDO_0001334 Chronic Phenotype Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. http://purl.obolibrary.org/obo/HP_0012574 Mesangial Hypercellularity http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment. http://purl.obolibrary.org/obo/HP_0012587 Macroscopic Hematuria http://purl.obolibrary.org/obo/SCDO_0000508 Hematuria Hematuria that is visible upon inspection of the urine. http://purl.obolibrary.org/obo/HP_0012594 Low Level Albuminuria http://purl.obolibrary.org/obo/SCDO_0000037 Albuminuria The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day). http://purl.obolibrary.org/obo/HP_0012735 Cough http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. http://purl.obolibrary.org/obo/HP_0100601 Eclampsia http://purl.obolibrary.org/obo/NCIT_C34941 Pregnancy Complication An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. http://purl.obolibrary.org/obo/HP_0100602 Preeclampsia http://purl.obolibrary.org/obo/NCIT_C34941 Pregnancy Complication Pregnancy-induced hypertension in association with significant amounts of protein in the urine. http://purl.obolibrary.org/obo/HP_0100749 Chest Pain http://purl.obolibrary.org/obo/SCDO_0000851 Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. http://purl.obolibrary.org/obo/HP_0100820 Glomerulopathy http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. http://purl.obolibrary.org/obo/CMO_0000001 Cardiovascular Measurement http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart and/or blood vessels. http://purl.obolibrary.org/obo/CMO_0000003 Blood Pressure Measurement http://purl.obolibrary.org/obo/CMO_0000001 Cardiovascular Measurement Measurement of the pressure, or force per area, exerted by circulating blood against the walls of the blood vessels. The pressure is dependent on the energy of the heart action, elasticity of the vessel walls and volume and viscosity of the blood. http://purl.obolibrary.org/obo/CMO_0000011 Whole Body Morphological Measurement http://purl.obolibrary.org/obo/CMO_0000021 Body Morphological Measurement Morphological measurement involving the entire body of an organism. http://purl.obolibrary.org/obo/CMO_0000015 Body Temperature http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement The level of heat in an organism. http://purl.obolibrary.org/obo/CMO_0000021 Body Morphological Measurement http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement Measurement of the structure or forms of the entire body or parts of the body of an organism. http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement http://purl.obolibrary.org/obo/CMO_0000035 Blood Measurement A quantification of a parameter of the chemical composition of blood. http://purl.obolibrary.org/obo/CMO_0000025 Red Blood Cell Count http://purl.obolibrary.org/obo/CMO_0001356 Red Blood Cell Measurement The number of red blood cells in a specified volume of blood most commonly 1 cubic millimeter (i.e. 1 microliter) of peripheral venous blood. http://purl.obolibrary.org/obo/CMO_0000027 White Blood Cell Count http://purl.obolibrary.org/obo/CMO_0002341 White Blood Cell Measurement The number of white blood cells in a specified volume of blood. http://purl.obolibrary.org/obo/CMO_0000029 Platelet Count http://purl.obolibrary.org/obo/CMO_0000921 Platelet Measurement The number of platelets (thrombocytes) in a specified volume of blood, usually expressed as platelets per cubic millimeter of whole blood. http://purl.obolibrary.org/obo/CMO_0000030 Blood Neutrophil Count http://purl.obolibrary.org/obo/CMO_0000111 Blood Granulocyte Count The number of granulocytes categorized as neutrophils in a specified volume of blood. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes. http://purl.obolibrary.org/obo/CMO_0000035 Blood Measurement http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement A measurement of the blood, it's contents, cells or other factors contained within the blood. http://purl.obolibrary.org/obo/CMO_0000036 Blood Cell Measurement http://purl.obolibrary.org/obo/CMO_0000035 Blood Measurement A value resulting from the quantification of a morphological or physiological parameter of blood cells, i.e. cells native to the circulation, including those of erythroid, lymphoid, myeloid and monocytic lineages. A cell is a membrane-enclosed protoplasmic mass constituting the smallest structural unit of an organism that is capable of independent functioning. http://purl.obolibrary.org/obo/CMO_0000037 Hematocrit http://purl.obolibrary.org/obo/CMO_0001356 Red Blood Cell Measurement Percentage of total blood volume that is made up of red blood cells. http://purl.obolibrary.org/obo/CMO_0000038 Mean Corpuscular Volume http://purl.obolibrary.org/obo/CMO_0001356 Red Blood Cell Measurement A measure of the average volume or size of a single red blood cell. It is derived by dividing the total volume of packed red blood cells by the total red blood cell count. http://purl.obolibrary.org/obo/CMO_0000057 Serum Creatinine Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of creatinine, a catabolic product of creatine phosphate used in skeletal muscle contraction found in a specified volume of serum. http://purl.obolibrary.org/obo/CMO_0000094 Respiratory System Measurement http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement A measurement to assess the morphological or physiological state of the respiratory system or portion of the respiratory system. http://purl.obolibrary.org/obo/CMO_0000111 Blood Granulocyte Count http://purl.obolibrary.org/obo/CMO_0000366 Blood Differential White Blood Cell Count The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter. http://purl.obolibrary.org/obo/CMO_0000123 Blood Bilirubin Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of bilirubin found in a specific volume of blood. http://purl.obolibrary.org/obo/CMO_0000195 Blood Flow Measurement http://purl.obolibrary.org/obo/CMO_0000001 Cardiovascular Measurement Any measurement of the movement of blood through the heart and blood vessels. http://purl.obolibrary.org/obo/CMO_0000204 Blood Coagulation Measurement http://purl.obolibrary.org/obo/CMO_0000035 Blood Measurement Measurement to assess the sequential process through which multiple factors of the blood interact to form an insoluble fibrin clot. http://purl.obolibrary.org/obo/CMO_0000210 Activated Partial Thromboplastin Time http://purl.obolibrary.org/obo/CMO_0000204 Blood Coagulation Measurement The time needed for plasma to form a fibrin clot after the addition of calcium and a phospholipid reagent. It is used to evaluate the intrinsic clotting system. http://purl.obolibrary.org/obo/CMO_0000211 Prothrombin Time http://purl.obolibrary.org/obo/CMO_0000204 Blood Coagulation Measurement Measurement of the clotting ability of fibrinogen, prothrombin, proaccelerin, proconvertin and Stuart factor, usually given in seconds to formation of clot after the addition of a tissue factor or thromboplastin. http://purl.obolibrary.org/obo/CMO_0000225 Arterial Blood Gas Measurement http://purl.obolibrary.org/obo/CMO_0001321 Blood Gas Measurement Any measurement of a gas or gases dissolved in arterial blood, that is, blood which has absorbed oxygen in the lungs, including oxygen, nitrogen carbon dioxide and/or hydrogen. http://purl.obolibrary.org/obo/CMO_0000256 Urine Measurement http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement Any measurement of urine, the fluid waste product excreted by the kidneys, or its components. http://purl.obolibrary.org/obo/CMO_0000283 Partial Pressure of Carbon Dioxide http://purl.obolibrary.org/obo/CMO_0000225 Arterial Blood Gas Measurement The force per unit area attributable to the carbon dioxide, a colorless, odorless, incombustible gas formed during respiration and composed of one atom of carbon and two atoms of oxygen, dissolved in a specified volume of blood, defined as the force per unit area exerted by carbon dioxide in a mixture of gases in equilibrium with such a sample of blood at the same temperature. http://purl.obolibrary.org/obo/CMO_0000290 Mean Corpuscular Hemoglobin Level http://purl.obolibrary.org/obo/CMO_0001356 Red Blood Cell Measurement The average amount of hemoglobin per red blood cell calculated by dividing the total mass of hemoglobin by the number of red blood cells in a volume of blood. http://purl.obolibrary.org/obo/CMO_0000291 Mean Corpuscular Hemoglobin Concentration http://purl.obolibrary.org/obo/CMO_0001356 Red Blood Cell Measurement The amount of hemoglobin in a given volume of packed red blood cells and is often calculated by dividing the hemoglobin concentration by the hematocrit. http://purl.obolibrary.org/obo/CMO_0000364 Complete Blood Count http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test The calculation of the cellular elements of the blood, usually including cell counts for white and red blood cells and platelets. http://purl.obolibrary.org/obo/CMO_0000365 Total White Blood Cell Count http://purl.obolibrary.org/obo/CMO_0000027 White Blood Cell Count The total number of leukocytes in 1 cubic millimeter of peripheral venous blood. http://purl.obolibrary.org/obo/CMO_0000366 Blood Differential White Blood Cell Count http://purl.obolibrary.org/obo/CMO_0000027 White Blood Cell Count The number of each type of leukocyte present in a specific volume of blood, usually 1 cubic millimeter. http://purl.obolibrary.org/obo/CMO_0000376 Total Serum Bilirubin Level http://purl.obolibrary.org/obo/CMO_0000123 Blood Bilirubin Level The complete or entire amount of bilirubin in a specified volume of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. Bilirubin is the bile pigment produced by breakdown of heme and reduction of biliverdin. http://purl.obolibrary.org/obo/CMO_0000506 Hemoglobin Concentration http://purl.obolibrary.org/obo/CMO_0000508 Hemoglobin Measurement The amount of hemoglobin, the red oxygen-carrying pigment of erythrocytes, in a specified volume of blood, as calculated from the optical density of a solution of lysed red cells in which hemoglobin has been converted to cyanomethemoglobin and measured with a spectrophotometer. http://purl.obolibrary.org/obo/CMO_0000507 Hemoglobin Absorbance http://purl.obolibrary.org/obo/CMO_0000508 Hemoglobin Measurement The optical density as calculated from the intensity of light at a specified wavelength as it passes through a solution of lysed red blood cells. http://purl.obolibrary.org/obo/CMO_0000508 Hemoglobin Measurement http://purl.obolibrary.org/obo/CMO_0000036 Blood Cell Measurement A measure of the oxygen carrying pigment of erythrocytes. http://purl.obolibrary.org/obo/CMO_0000665 Heart Contraction Pressure http://purl.obolibrary.org/obo/SCDO_1000317 Heart Measurement Pressure exerted by the heart muscle in its maximally contracted state. http://purl.obolibrary.org/obo/CMO_0000921 Platelet Measurement http://purl.obolibrary.org/obo/CMO_0000036 Blood Cell Measurement Any measurement of platelets, the disk-shaped structures found in the blood of mammals which play a vital role in blood coagulation. Platelets lack nuclei and DNA but contain active enzymes and mitochondria. http://purl.obolibrary.org/obo/CMO_0001321 Blood Gas Measurement http://purl.obolibrary.org/obo/CMO_0000035 Blood Measurement Any measurement of a gas or gases dissolved in the blood, including oxygen, nitrogen carbon dioxide and/or hydrogen. http://purl.obolibrary.org/obo/CMO_0001324 Oxygen Saturation http://purl.obolibrary.org/obo/CMO_0001321 Blood Gas Measurement The amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity. http://purl.obolibrary.org/obo/CMO_0001356 Red Blood Cell Measurement http://purl.obolibrary.org/obo/CMO_0000036 Blood Cell Measurement Any measurement of a single red blood cell, one of the hemoglobin-containing blood cells that transport oxygen and carbon dioxide to and from the tissues, or of all of the red blood cells in a sample of blood. http://purl.obolibrary.org/obo/CMO_0002079 Birth Weight http://purl.obolibrary.org/obo/SCDO_0000152 Body Weight The heaviness or degree to which the entire body of an organism at the point of or shortly after birth is drawn to the earth by gravity. http://purl.obolibrary.org/obo/CMO_0002341 White Blood Cell Measurement http://purl.obolibrary.org/obo/CMO_0000036 Blood Cell Measurement Any value resulting from the quantification of a morphological or physiological parameter of leukocytes, largely colorless blood corpuscles capable of ameboid movement, whose chief function is to protect the body against microorganisms and other disease-causing entities. http://purl.obolibrary.org/obo/CMO_0002520 Serum Haptoglobin Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement Measurement of the amount of haptoglobin in a specified sample of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. Haptoglobin is a serum alpha2 globulin glycoprotein, produced by the liver, that functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. http://purl.obolibrary.org/obo/UO_0000000 Unit of Measurement http://purl.obolibrary.org/obo/SCDO_1000472 Data Standards A standardized quantity of a physical quality. http://purl.obolibrary.org/obo/UO_0000190 Ratio http://purl.obolibrary.org/obo/UO_0000186 Dimensionless Unit A dimensionless unit which denotes an amount or magnitude of one quantity relative to another. http://purl.obolibrary.org/obo/HsapDv_0000000 Human Life Cycle Stage http://purl.obolibrary.org/obo/NCIT_C43646 Association A spatiotemporal region encompassing some part of the life cycle of an organism. http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental Abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. This term should be used to describe abnormalities with onset in the developmental period. http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of Cardiovascular System Any structural anomaly of the heart and great vessels. http://purl.obolibrary.org/obo/STATO_0000091 Genome Wide Association Study http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Genome wide association study is a kind of study whose objective is to detect association between genetic markers (SNP or otherwise) accross the genome and a trait which may be a disease or another phenotype (e.g. trait of agronomic relevance in animal or plant studies). Genome wide association study compare the allele frequencies in 2 populations, one free of the trait used as control, the other one showing the trait use as 'case'. GWAS studies implement case-control design. http://purl.obolibrary.org/obo/NCIT_C103526 Patient Health Questionnaire-9 (PHQ-9) http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument A 9-item scale using each of the 9 DSM-IV criteria with self-reported frequency of "0" (not at all) to "3" (nearly every day). One of the most widely used instruments to assess depression, PHQ-9 scores of 5, 10, 15, and 20 represent mild, moderate, moderately severe, and severe depression, respectively. http://purl.obolibrary.org/obo/NCIT_C107564 S-Nitroso-Hemoglobin http://purl.obolibrary.org/obo/NCIT_C16676 Hemoglobin Hemoglobin that has a nitric oxide bound to the cysteine at position 93 in the beta-globin chain. http://purl.obolibrary.org/obo/NCIT_C16676 Hemoglobin http://purl.obolibrary.org/obo/NCIT_C26548 Gene Product The red respiratory protein of erythrocytes, consisting of approximately 3.8% heme and 96.2% globin (64.5 KD), which as oxyhemoglobin (HbO2) transports oxygen from the lungs to the tissues where the oxygen is readily released and HbO2 becomes Hb. http://purl.obolibrary.org/obo/NCIT_C25150 Age http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor How long something has existed; elapsed time since birth. http://purl.obolibrary.org/obo/NCIT_C118385 deprecated-Avascular Necrosis http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Tissue death resulting from an interruption to the blood supply. http://purl.obolibrary.org/obo/NCIT_C120254 Intelligence Scale - 16 to 90 years http://purl.obolibrary.org/obo/NCIT_C122920 Intelligence Scale A standardized tool designed to assess an individual's cognitive abilities. It consists of a battery of tests that allow an investigator to conduct a comprehensive cognitive evaluation of IQ. http://purl.obolibrary.org/obo/NCIT_C120255 Intelligence Scale - 6 to 16 years 11 months http://purl.obolibrary.org/obo/NCIT_C122920 Intelligence Scale A battery of tests that allow an investigator to conduct a comprehensive evaluation of a child or adolescent's cognitive ability. http://purl.obolibrary.org/obo/NCIT_C120256 Intelligence Scale - 2 years, 6 months to 7 years, 7 months http://purl.obolibrary.org/obo/NCIT_C122920 Intelligence Scale A standardized tool designed to assess the cognitive development in preschool and young children (up to age 7 years and 7 months). It consists of a battery of tests that allow an investigator to conduct a comprehensive evaluation of IQ. http://purl.obolibrary.org/obo/NCIT_C16779 Language http://purl.obolibrary.org/obo/SCDO_0001551 Ethnolinguistics A systematic means of communicating by the use of sounds, symbols, or gestures. http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure http://purl.obolibrary.org/obo/CMO_0000003 Blood Pressure Measurement The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure http://purl.obolibrary.org/obo/CMO_0000003 Blood Pressure Measurement The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. http://purl.obolibrary.org/obo/NCIT_C258 Antibiotic http://purl.obolibrary.org/obo/CHEBI_23888 Drug Substances naturally produced by microorganisms or their derivatives that selectively target microorganisms not humans. Antibiotics kill or inhibit the growth of microorganisms by targeting components of the microbial cell absent from human cells, including bacterial cell walls, cell membrane, and 30S or 50S ribosomal subunits. These substances are used in the treatment of bacterial and other microbial infections. http://purl.obolibrary.org/obo/NCIT_C70731 Clinical Trial Subject Unique Identifier http://purl.obolibrary.org/obo/NCIT_C69256 Subject Unique Identifier A unique identifier assigned to each clinical trial subject to protect the subject's identity and used in lieu of the subject's name when the investigator reports adverse events and/or other trial-related data. http://purl.obolibrary.org/obo/NCIT_C71375 Abdominal Ultrasound http://purl.obolibrary.org/obo/NCIT_C17230 Ultrasound Test A method of ultrasound imaging in which the ultrasound probe is pressed against the skin of the abdomen in order to create an image of the abdominal organs. http://purl.obolibrary.org/obo/NCIT_C71754 Anonymous http://purl.obolibrary.org/obo/SCDO_0002125 Confidentiality Having no known name or identity or known source. http://purl.obolibrary.org/obo/NCIT_C85397 Spirometry http://purl.obolibrary.org/obo/SCDO_0000942 Pulmonary Function Test Measurement of the breathing capacity of the lung by means of a spirometer. http://purl.obolibrary.org/obo/NCIT_C86008 Methemoglobin http://purl.obolibrary.org/obo/NCIT_C16676 Hemoglobin A product of hemoglobin produced by oxidation of the iron atom from the ferrous to the ferric state. http://purl.obolibrary.org/obo/NCIT_C92803 Genetic Screening http://purl.obolibrary.org/obo/NCIT_C15709 Genetic Testing Testing to determine if there is a predisposition or indication of a possible genetic or a chromosomal abnormality. http://purl.obolibrary.org/obo/NCIT_C93407 Study Outcome Measurement http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics Specific key measurement(s) or observation(s) used to measure the effect of experimental variables on the subjects in a study, or for observational studies, to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. The specific measure that receives the most emphasis in assessment. http://purl.obolibrary.org/obo/NCIT_C95437 Acute Pancreatitis http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. http://purl.obolibrary.org/obo/NCIT_C95504 Hemoglobin H Disease http://purl.obolibrary.org/obo/SCDO_0000042 Alpha Thalassemia A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia. http://purl.obolibrary.org/obo/NCIT_C95535 Alpha Thalassemia Trait http://purl.obolibrary.org/obo/SCDO_0000551 Thalassemia Trait A condition in which a person has reduced protein production from two of the four alpha-globin alleles. http://purl.obolibrary.org/obo/NCIT_C95536 Alpha Thalassemia Silent Carrier http://purl.obolibrary.org/obo/SCDO_0000551 Thalassemia Trait A condition in which a person has reduced protein production from one of the four alpha-globin alleles. http://purl.obolibrary.org/obo/NCIT_C95539 Sickle Beta Thalassemia http://purl.obolibrary.org/obo/SCDO_0007656 Sickle Cell Thalassemia A compound heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene. http://purl.obolibrary.org/obo/NCIT_C142664 Recruitment Period http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics The interval of time during which subjects are to be enrolled in a clinical study. http://purl.obolibrary.org/obo/NCIT_C173396 Cerebral Blood Flow Velocity http://purl.obolibrary.org/obo/SCDO_0000213 Cerebrovascular Hemodynamics The rate of blood flow through the cerebral arteries. http://purl.obolibrary.org/obo/SCDO_0000334 D57.819 Other sickle-cell disorders with crisis, unspecified http://purl.obolibrary.org/obo/SCDO_0000331 D57.81 Other sickle-cell disorders with crisis - http://purl.obolibrary.org/obo/SCDO_0000765 Genetic Phenomena http://purl.obolibrary.org/obo/SCDO_0001000 SCDO The biological processes, properties, and objects that are involved in maintaining, expressing, and transmitting from one organism to another, genetically encoded traits. http://purl.obolibrary.org/obo/CHEBI_5790 Hydromorphone http://purl.obolibrary.org/obo/CHEBI_35482 Opioid An opioid analgesic derived from morphine and used mainly as an analgesic. It has a shorter duration of action and is more potent than morphine. http://purl.obolibrary.org/obo/NCIT_C128326 Intra-Abdominal Abscess http://purl.obolibrary.org/obo/IDO_0000586 Infection An abscess within the abdomen. http://purl.obolibrary.org/obo/NCIT_C129072 Hereditary Persistence of Fetal Hemoglobin http://purl.obolibrary.org/obo/SCDO_0007192 Quantitative Hemoglobinopathy The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. http://purl.obolibrary.org/obo/NCIT_C19771 Molecular Profiling Assay http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay Analysis of the RNA expression pattern in a tissue sample using molecular techniques. http://purl.obolibrary.org/obo/NCIT_C3245 Fungal Infection http://purl.obolibrary.org/obo/IDO_0000586 Infection An infection caused by a fungus. http://purl.obolibrary.org/obo/EUPATH_0000034 Alpha Thalassemia Genotype http://purl.obolibrary.org/obo/SCDO_0004061 Genotype A genotype information which is about the presence and degree of alpha-thalassemia, a form of thalassemia involving the number of functional HBA1 and HBA2 genes. http://purl.obolibrary.org/obo/EUPATH_0000050 Routine Clinical Visit http://purl.obolibrary.org/obo/NCIT_C103165 Subject Visit Type A clinical visit that is primarily for a regular examination. http://purl.obolibrary.org/obo/EUPATH_0000215 Severe Anemia http://purl.obolibrary.org/obo/HP_0001903 Anemia An anemia with hemoglobin levels less than 5 gm/dL. http://purl.obolibrary.org/obo/EUPATH_0000310 Information on Observation Details http://purl.obolibrary.org/obo/SCDO_0006339 Research An information content entity that is about a clinical visit. http://purl.obolibrary.org/obo/ICO_0000179 Broad Consent http://purl.obolibrary.org/obo/SCDO_0007087 Informed Consent An informed consent for an unspecified range of future research subject to a few content and/or process restrictions. http://purl.obolibrary.org/obo/SCDO_0000396 Doppler Ultrasound Machine - 2 Megahertz http://purl.obolibrary.org/obo/OBI_0001098 Ultrasound Machine A diagnostic ultrasound-based imaging technique operating at the frequency range of 2 megahertz. This machine makes use of the doppler effect to measure and visualise blood flow for possible pathology or lesions within blood vessels. http://purl.obolibrary.org/obo/SCDO_1000228 Hemoglobin Genotype AO-Arab http://purl.obolibrary.org/obo/SCDO_0004061 Genotype A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains for hemoglobin O-Arab. Individuals with this genotype are known to be carriers of the hemoglobin O-Arab trait. http://purl.obolibrary.org/obo/SCDO_0000066 Antihistamine http://purl.obolibrary.org/obo/CHEBI_23888 Drug Drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists. Classical antihistaminics block the histamine H1 receptors only. http://purl.obolibrary.org/obo/MP_0011469 Abnormal Urine Creatinine Level http://purl.obolibrary.org/obo/MP_0011468 Abnormal Urine Amino Acid Level Any change in the amount of creatinine in the urine http://purl.obolibrary.org/obo/MP_0011470 Increased Urine Creatinine Level http://purl.obolibrary.org/obo/MP_0011469 Abnormal Urine Creatinine Level An increased amount of creatinine in the urine compared to the normal state. http://purl.obolibrary.org/obo/MP_0011471 Decreased Urine Creatinine Level http://purl.obolibrary.org/obo/MP_0011469 Abnormal Urine Creatinine Level a reduced amount of creatinine in the urine compared to the normal state http://purl.obolibrary.org/obo/MP_0013305 Isosthenuria http://purl.obolibrary.org/obo/HP_0004727 Impaired Renal Concentrating Ability Inability of the kidneys to produce either a concentrated or a dilute urine; refers to a state in chronic renal disease in which the kidney cannot form urine with a higher or a lower specific gravity (concentration) than that of protein-free plasma; the specific gravity of the urine becomes fixed, irrespective of the fluid intake. http://purl.obolibrary.org/obo/OGMS_0000028 Disease Phenotype http://purl.obolibrary.org/obo/OGMS_0000023 Phenotype A clinically abnormal phenotype that is characteristic of a single disease. http://purl.obolibrary.org/obo/OGMS_0000046 Epigenetic Disorder http://purl.obolibrary.org/obo/SCDO_0000444 Genetic Disease Modifier A disorder whose etiology involves (1) a modification to the patient's genomic DNA which leads to alterations in the normal expression pattern of the genome, but is (2) not a change in the nucleotide sequence. http://purl.obolibrary.org/obo/OGMS_0000047 Genetic Disorder http://purl.obolibrary.org/obo/DOID_4 Disease A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism's genome. http://purl.obolibrary.org/obo/OGMS_0000051 Constitutional Genetic Disorder http://purl.obolibrary.org/obo/OGMS_0000047 Genetic Disorder A genetic disorder inherited during conception that is part of all cells in the organism. http://purl.obolibrary.org/obo/OGMS_0000088 Patient Symptom Report http://purl.obolibrary.org/obo/SCDO_0000738 Medical Records A communication from a patient about something they perceive as being abnormal about their body or life. http://purl.obolibrary.org/obo/IDOMAL_0000592 Spleen Examination http://purl.obolibrary.org/obo/SCDO_0000898 Physical Examination Any process carried out to determine the condition of a patient's spleen. http://purl.obolibrary.org/obo/NCIT_C156541 Separated http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer A person who is separated from their spouse, whether or not there is a legal arrangement. http://purl.obolibrary.org/obo/SCDO_0000493 Health Service Utilization http://purl.obolibrary.org/obo/SCDO_0000948 Quality of Health Care The measure of the population's use of the health care services available to them. This includes the utilization of hospital resources, Personal Care Home (PCH) resources, and physician resources. Health care utilization and health status are used to examine how efficiently a health care system produces health in a population. http://purl.obolibrary.org/obo/SCDO_0000742 Mefloquine http://purl.obolibrary.org/obo/IDOMAL_0000122 Malaria Chemoprophylaxis A phospholipid-interacting antimalarial drug (antimalarials). It is very effective against plasmodium falciparum with very few side effects. http://purl.obolibrary.org/obo/SCDO_0000514 Hemoglobin S http://purl.obolibrary.org/obo/SCDO_0003807 Abnormal Hemoglobin An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia. http://purl.obolibrary.org/obo/SCDO_0001249 X-Ray Image http://purl.obolibrary.org/obo/SCDO_1000313 Diagnostic Device Visual Output The visual output that an X-ray machine produces. http://purl.obolibrary.org/obo/SCDO_0000115 Beta Zero Thalassemia http://purl.obolibrary.org/obo/SCDO_0000111 Beta Thalassemia Beta-zero thalassemia is a form of beta-thalassemia in which beta-globin chain synthesis is absent. The clinical phenotype is often that of transfusion-dependant beta thalassemia major, however modifying factors may ameliorate the symptoms of severe anemia (Cao & Gallanelo, 2010). http://purl.obolibrary.org/obo/SCDO_0007597 Descriptor of Consent http://purl.obolibrary.org/obo/SCDO_0006339 Research Information or a description of consent (hypothetical or obtained) or any aspect involved in or captured in the consent process. http://purl.obolibrary.org/obo/SCDO_0009664 Abdominal Vaso-Occlusive Crisis http://purl.obolibrary.org/obo/SCDO_0001229 Vaso-Occlusive Crisis Pain resulting from tissue ischemia as a result of blockage of mesenteric blood vessels. http://purl.obolibrary.org/obo/SCDO_0001049 Sickle Cell Disease Screening Test http://purl.obolibrary.org/obo/SCDO_0000781 Mutation Carrier Screening Sickle cell tests are used to help diagnose sickle cell anemia (also called sickle cell disease) and to identify those who may have sickle cell trait. Sickle cell anemia is an inherited disorder that leads to the production of an abnormal hemoglobin called hemoglobin S (Hb S or Hgb S). Sickle cell tests determine the presence and relative amount of hemoglobin S in a blood sample. http://purl.obolibrary.org/obo/SCDO_1000067 Hemoglobin Genotype S/Beta Zero Thalassaemia http://purl.obolibrary.org/obo/SCDO_1000107 Hemoglobin Genotype S/Beta Thalassemia When one beta-globin gene carries the hemoglobin S mutation (beta6Glu>Val) whereas the other carries a null mutation, called beta-zero, because of the resulting inability to synthesize any beta-globin chain. http://purl.obolibrary.org/obo/SCDO_0000706 obsolete Lymphoid System http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype 'The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system. [Curator team: []]' http://purl.obolibrary.org/obo/SCDO_0000249 obsolete Clinical Diagnostic Questionnaire http://purl.obolibrary.org/obo/SCDO_0000957 obsolete Questionnaire 'A quick and accurate way of assessing the patient health states using well defined set of questions and analyzed for an optimal clinical decision for the patient. [Curator team: Gaston K. Mazandu]' http://purl.obolibrary.org/obo/SCDO_1000839 Normal Partial Pressure of Carbon Dioxide http://purl.obolibrary.org/obo/SCDO_1000812 Normal Metabolism/Homeostasis Phenotype When the pressure exerted by carbon dioxide dissolved in the blood falls in the normal range. http://purl.obolibrary.org/obo/SCDO_0000415 Electrocardiogram http://purl.obolibrary.org/obo/SCDO_1000313 Diagnostic Device Visual Output The visual output that an electrocardiograph produces. http://purl.obolibrary.org/obo/SBO_0000316 MicroRNA http://purl.obolibrary.org/obo/NCIT_C26548 Gene Product Single-stranded RNA molecules thought to regulate the expression of other genes. miRNAs are encoded by genes that are transcribed from DNA but not translated into protein (non-coding RNA). http://purl.obolibrary.org/obo/SCDO_0000950 Quality of Life and Care http://purl.obolibrary.org/obo/SCDO_0001000 SCDO The subjective measurement of an individual's sense of well-being and ability to enjoy life, and the levels of excellence which characterize the health service or health care provided to individuals based on accepted standards of quality. http://purl.obolibrary.org/obo/SCDO_0000116 Beta-Globin Locus http://purl.obolibrary.org/obo/SCDO_0000456 Globin Locus A globin locus composed of five genes located on a short 45 kb region of chromosome 11. The order of genes in this cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. It is responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Hemoglobin. http://purl.obolibrary.org/obo/SCDO_0000035 Alanine Aminotransferase Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of alanine aminotransferase present in a specified volume of blood. http://purl.obolibrary.org/obo/SCDO_1000826 Normal Mean Corpuscular Hemoglobin http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype When the average amount of hemoglobin per red blood cell (calculated by dividing the total mass of hemoglobin by the number of red blood cells in a volume of blood) falls in the normal range. http://purl.obolibrary.org/obo/SCDO_1000383 Renal Complication http://purl.obolibrary.org/obo/NCIT_C2959 Complication Any kidney disorder occurring as a consequence of injury to the kidney. http://purl.obolibrary.org/obo/SCDO_0002106 Splenic Infarction http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the Spleen Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. http://purl.obolibrary.org/obo/SCDO_1000242 Autosomal Recessive Homozygous http://purl.obolibrary.org/obo/HP_0000007 Autosomal Recessive A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals that are homozygotes (having two copies of the same mutant allele). http://purl.obolibrary.org/obo/SCDO_1000834 Normal Reticulocyte Count http://purl.obolibrary.org/obo/SCDO_1000821 Normal Hematopoietic System Phenotype When the number of reticulocytes in a specified volume of blood falls in the normal range. http://purl.obolibrary.org/obo/PR_000001318 L-Selectin http://purl.obolibrary.org/obo/NCIT_C26548 Gene Product A protein that is a translation product of the human SELL gene or a 1:1 ortholog thereof. It is a leukocyte adhesion receptor that play an important role in regulating the inflammatory response by mediating leukocyte tethering and rolling on adherent leukocytes. http://purl.obolibrary.org/obo/UO_0000104 fL http://purl.obolibrary.org/obo/UO_0000095 Volume Unit A volume unit which is equal to 10^[-15] L. http://purl.obolibrary.org/obo/UO_0000186 Dimensionless Unit http://purl.obolibrary.org/obo/UO_0000000 Unit of Measurement A unit which is a standard measure of physical quantity consisting of only a numerical number without any units. http://purl.obolibrary.org/obo/UO_0000187 Percent http://purl.obolibrary.org/obo/UO_0000190 Ratio A dimensionless ratio unit which denotes numbers as fractions of 100. http://purl.obolibrary.org/obo/VT_0000202 Alkaline Phosphatase Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of alkaline phosphatase present in a specified volume of blood. http://purl.obolibrary.org/obo/NCIT_C142494 Data Storage http://purl.obolibrary.org/obo/SCDO_0006339 Research To maintain data by placing the data, or a copy of the data, onto an electronically accessible device for preservation (either in plain-text or encrypted format). http://purl.obolibrary.org/obo/NCIT_C142541 Research Ethics Committee http://purl.obolibrary.org/obo/SCDO_1000430 Ethics Related Concept An independent group that comprises medical, scientific, and non-scientific members, and is tasked with the continuing review and approval of research, including clinical trials, with respect to the protocols, methods, and informed consent process to ensure the protection of the rights, safety, and wellbeing of participants. http://purl.obolibrary.org/obo/SCDO_0000114 Beta Thalassemia Trait http://purl.obolibrary.org/obo/SCDO_0000251 Clinical Phenotype of Beta Thalassemia The inheritance of only one mutated beta-globin allele (beta+ or beta0). http://purl.obolibrary.org/obo/NCIT_C164339 Date of Diagnosis http://purl.obolibrary.org/obo/SCDO_1000538 Diagnosis Temporal Observable The date on which a diagnosis of disease was made. http://purl.obolibrary.org/obo/SCDO_0000194 Causal Adverse Drug Event Due to Genetic Predisposition http://purl.obolibrary.org/obo/SCDO_0000191 Causal Adverse Drug Event A causal adverse drug event that is induced by genetic predisposition. http://purl.obolibrary.org/obo/SCDO_1000114 HBB, THR87LYS http://purl.obolibrary.org/obo/SCDO_0002305 Hemoglobin D Disease Causal Mutation A mutation where the threonine in position 87 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. http://purl.obolibrary.org/obo/SCDO_0000878 PedsQL Sickle Cell Disease Module http://purl.obolibrary.org/obo/NCIT_C78652 Pediatric Quality of Life Inventory (PedsQL) The PedsQL Sickle Cell Disease Module includes 43 items from 9 subscales: Pain and Hurt (9 items); Pain Impact (10 items); Pain Management and Control (2 items); Worry (5 items); Worry II (2 items); Emotions (2 items); Treatment (7 items); Communication I (3 items); and Communication II (3 items). For all ages, each item asks how much of a problem there has been in the past month. There are self- or parent-reported forms for ages 8 to 18, and responses are scored on a 5-point Likert-style scale (0 = never a problem; 1 = almost never a problem; 2 = sometimes a problem; 3 = often a problem; 4 = almost always a problem). Forms for children ages 5 to 7 are interviewer-administered, and responses include a 3-point Likert-style scale (0 = not at all a problem; 2 = sometimes a problem; 4 = a lot of a problem). Items are reversed-scored and converted to a 100-point scale (0 = 100, 1 = 75, 2 = 50, 3 = 25, 4 = 0) with higher scores indicating better quality of life. Scores for individual subscales are the sum of items divided by the total number or items answered. The total score for the PedsQL Sickle Cell Disease Module is the sum of the items divided by the number of items answered. http://purl.obolibrary.org/obo/SCDO_0000119 Bilirubin Blood Test http://purl.obolibrary.org/obo/NCIT_C74954 Liver Function Test A bioassay to measure levels of bilirubin, a yellow substance found in bile produced when the liver breaks down old red blood cells. http://purl.obolibrary.org/obo/HP_0012819 Myocarditis http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology Inflammation of the myocardium. http://purl.obolibrary.org/obo/HP_0025066 Decreased Mean Corpuscular Volume http://purl.obolibrary.org/obo/HP_0025065 Abnormal Mean Corpuscular Volume A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). http://purl.obolibrary.org/obo/HP_0025142 Constitutional Symptom http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/HP_0030049 Brain Abscess http://purl.obolibrary.org/obo/HP_0012639 Abnormal Nervous System Morphology A collection of pus, immune cells, and other material in the brain. http://purl.obolibrary.org/obo/HP_0030050 Narcolepsy http://purl.obolibrary.org/obo/HP_0000708 Behavioural Abnormality An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. http://purl.obolibrary.org/obo/HP_0030058 Sickled Erythrocyte http://purl.obolibrary.org/obo/HP_0004447 Poikilocytosis An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains). http://purl.obolibrary.org/obo/HP_0030127 Endometriosis http://purl.obolibrary.org/obo/HP_0012243 Abnormal Reproductive System Morphology The growth of endometrial tissue outside the uterus. http://purl.obolibrary.org/obo/HP_0030243 Hepatic Vein Thrombosis http://purl.obolibrary.org/obo/HP_0001977 Abnormal Thrombosis An obstruction in the veins of the liver caused by a blood clot (thrombosis). http://purl.obolibrary.org/obo/HP_0030248 Mesenteric Venous Thrombosis http://purl.obolibrary.org/obo/HP_0001977 Abnormal Thrombosis A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). http://purl.obolibrary.org/obo/HP_0045040 Abnormal Lactate Dehydrogenase Level http://purl.obolibrary.org/obo/HP_0012379 Abnormal Enzyme/Coenzyme Activity A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. http://purl.obolibrary.org/obo/HP_0045048 Increased Hemoglobin A2 http://purl.obolibrary.org/obo/HP_0020063 Increased Hemoglobin Concentration An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. http://purl.obolibrary.org/obo/NBO_0000131 Alcohol Intake http://purl.obolibrary.org/obo/SCDO_0000487 Health Behaviour A drinking behavior associated with the intake of alcohol. http://purl.obolibrary.org/obo/IDO_0000515 Microbiome http://purl.obolibrary.org/obo/SCDO_0000122 Biological Disease Modifier An organism population whose members are particpating in non-parasitic symbiosis with a particular host. http://purl.obolibrary.org/obo/IDO_0000560 Antifungal http://purl.obolibrary.org/obo/CHEBI_23888 Drug A material entity bearing an antifungal disposition. http://purl.obolibrary.org/obo/HP_0000084 Kidney Failure http://purl.obolibrary.org/obo/SCDO_1000383 Renal Complication Failure of the kidneys to adequately filter toxins and waste products from the blood; classified as acute (as in acute kidney injury) or chronic (as in chronic kidney disease); a number of other diseases or health problems may cause either form of renal failure to occur. http://purl.obolibrary.org/obo/HP_0032224 ABO Blood Group http://purl.obolibrary.org/obo/SCDO_0009884 Biochemical Phenotype The ABO histo-blood group consists of two antigens (A and B antigens) and four blood types (types A, B, AB, and O). The A and B antigens are the product of the ABO gene and are autosomal codominant. The group O phenotype is an autosomal-recessive phenotype due to the homozygous inheritance of two null ABO alleles. Group O individuals express the H antigen, the biosynthetic precursor to A and B antigens. ABO, therefore, is the blood type, whereas A, B, and H refer to the antigens. The ABO system consists of A and B antigens and antibodies against these antigens. http://purl.obolibrary.org/obo/NCIT_C168823 Year of Diagnosis http://purl.obolibrary.org/obo/SCDO_1000538 Diagnosis Temporal Observable The year when a diagnosis was assigned to an individual's condition. http://purl.obolibrary.org/obo/SCDO_0000298 Cross-Sectional Studies http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with longitudinal studies which are followed over a period of time. http://purl.obolibrary.org/obo/SCDO_0000312 D57.0 Hb-SS disease with crisis http://purl.obolibrary.org/obo/SCDO_0000311 D57 Sickle-Cell Disorders Broad term used to describe several different acute conditions occurring with sickle cell disease, including aplastic crisis, hemolytic crisis, and vasoocclusive crisis. http://purl.obolibrary.org/obo/SCDO_0000531 Hemoglobin E Trait http://purl.obolibrary.org/obo/NCIT_C95534 Hemoglobin Trait The inheritance of the gene for hemoglobin E from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent. http://purl.obolibrary.org/obo/SCDO_0000677 Kinesiotherapy http://purl.obolibrary.org/obo/SCDO_0000978 Rehabilitation A specialized area of medicine in which exercise and movement are used as the primary form of rehabilitation. http://purl.obolibrary.org/obo/DUO_0000018 Not for Profit Use Only http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This requirement indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use. http://purl.obolibrary.org/obo/DUO_0000019 Publication Required http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This requirement indicates that requestor agrees to make results of studies using the data available to the larger scientific community. http://purl.obolibrary.org/obo/DUO_0000020 Collaboration Required http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This could be coupled with a string describing the primary study investigator(s). http://purl.obolibrary.org/obo/DUO_0000021 Ethics Approval Required http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This requirement indicates that the requestor must provide documentation of local IRB/ERB approval. http://purl.obolibrary.org/obo/DUO_0000022 Geographical Restriction http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This should be coupled with an ontology term describing the geographical location the restriction applies to. http://purl.obolibrary.org/obo/DUO_0000024 Publication Moratorium http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This should be coupled with a date specified as ISO8601 http://purl.obolibrary.org/obo/DUO_0000025 Time Limit on Use http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This should be coupled with an integer value indicating the number of months. http://purl.obolibrary.org/obo/DUO_0000026 User Specific Restriction http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This requirement indicates that use is limited to use by approved users. http://purl.obolibrary.org/obo/DUO_0000027 Project Specific Restriction http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This requirement indicates that use is limited to use within an approved project. http://purl.obolibrary.org/obo/DUO_0000028 Institution Specific Restriction http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This requirement indicates that use is limited to use within an approved institution. http://purl.obolibrary.org/obo/DUO_0000029 Return to Database or Resource http://purl.obolibrary.org/obo/SCDO_1000408 Data Use Requirements This requirement indicates that the requestor must return derived/enriched data to the database/resource. http://purl.obolibrary.org/obo/ENVO_02500036 Pollution http://purl.obolibrary.org/obo/SCDO_0000897 Physical Environment An environmental system process that results in the introduction of contaminants into an environment. http://purl.obolibrary.org/obo/NCIT_C20197 Male http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. http://purl.obolibrary.org/obo/NCIT_C20629 Silent Mutation http://purl.obolibrary.org/obo/NCIT_C62200 Point Mutation A point mutation occurring within the protein-coding region of a gene, and which codes for the same amino acid as expected. http://purl.obolibrary.org/obo/NCIT_C20711 SP1 Gene http://purl.obolibrary.org/obo/NCIT_C16612 Gene This gene plays a role in transcriptional regulation and is involved in several signal transduction pathways. http://purl.obolibrary.org/obo/NCIT_C63547 Haplotype http://purl.obolibrary.org/obo/SCDO_0004061 Genotype A way of denoting the collective genotype of a number of closely linked loci on a chromosome. http://purl.obolibrary.org/obo/NCIT_C34465 Cholecystitis http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. http://purl.obolibrary.org/obo/NCIT_C34887 Peri-Operative Pain http://purl.obolibrary.org/obo/SCDO_0000851 Pain A sensation of discomfort secondary to surgery. http://purl.obolibrary.org/obo/NCIT_C35069 Thalassemia http://purl.obolibrary.org/obo/SCDO_0007192 Quantitative Hemoglobinopathy An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. http://purl.obolibrary.org/obo/NCIT_C35146 Chronic Cholecystitis http://purl.obolibrary.org/obo/NCIT_C34465 Cholecystitis Cholecystitis that is persistent and long-standing. http://purl.obolibrary.org/obo/NCIT_C35152 Acute Cholecystitis http://purl.obolibrary.org/obo/NCIT_C34465 Cholecystitis Acute inflammation of the gallbladder. http://purl.obolibrary.org/obo/NCIT_C35372 Ascending Cholangitis http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the Digestive System Acute infection of the bile ducts caused by bacteria ascending from the small intestine. http://purl.obolibrary.org/obo/NCIT_C35447 Osteonecrosis of the Femoral Head http://purl.obolibrary.org/obo/HP_0010885 Osteonecrosis Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply. http://purl.obolibrary.org/obo/NCIT_C50791 Urinary Tract Infection http://purl.obolibrary.org/obo/IDO_0000586 Infection A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. http://purl.obolibrary.org/obo/NCIT_C96239 Glomerular Hypertrophy http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the Kidney A morphologic finding indicating enlargement of the glomeruli in a kidney specimen. http://purl.obolibrary.org/obo/NCIT_C49674 Breaths per Minute http://purl.obolibrary.org/obo/UO_0000280 Rate Unit The number of breaths (inhalation and exhalation) taken per minute time. http://purl.obolibrary.org/obo/NCIT_C50474 Bradypnea http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System Abnormal decrease of rate of breathing. http://purl.obolibrary.org/obo/NCIT_C50767 Tachypnea http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System Abnormal increase of rate of breathing. http://purl.obolibrary.org/obo/NCIT_C51677 Liver Biopsy http://purl.obolibrary.org/obo/SCDO_0000082 Diagnostic Technique, Method, Test or Assay Removal of tissue from the liver for microscopic examination. http://purl.obolibrary.org/obo/NCIT_C51773 Married http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer Indicates a person currently joined in a legally binding matrimonial union. Classify common law marriage as married. Includes married couples living together and not living together. http://purl.obolibrary.org/obo/NCIT_C51774 Never Been Married http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer Indicates a person who has never been married or whose marriages have been annulled. http://purl.obolibrary.org/obo/NCIT_C51775 Widowed http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer Indicates a person who is no longer married because of the death of his/her spouse and has not remarried. http://purl.obolibrary.org/obo/NCIT_C51776 Divorced http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer Indicates a person whose marriage has been legally dissolved and has not remarried. http://purl.obolibrary.org/obo/NCIT_C51993 Antibiotic Prophylaxis http://purl.obolibrary.org/obo/SCDO_0000930 Infection Prophylaxis Administration of antibiotics with the intent of preventing bacterial infection. http://purl.obolibrary.org/obo/NCIT_C52009 Amniocentesis http://purl.obolibrary.org/obo/SCDO_0000919 Prenatal Screening for Sickle Cell A prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen. This procedure is used to detect various genetic abnormalities in the fetus and/or the sex of the fetus. http://purl.obolibrary.org/obo/NCIT_C67015 mg/dL http://purl.obolibrary.org/obo/UO_0000180 Mass Per Unit Volume A unit of mass concentration defined as the concentration of one milligram of a substance in unit volume of the mixture equal to one cubic deciliter or 100 cubic centimeters. It is also a unit of mass density (volumic mass) defined as the density of substance which mass equal to one milligram occupies the volume one cubic deciliter or 100 cubic centimeters. http://purl.obolibrary.org/obo/NCIT_C67244 thousand cells per microliter http://purl.obolibrary.org/obo/UO_0000316 cells per microliter A unit of cell concentration expressed as a number of cells in thousands per unit volume equal to one microliter. http://purl.obolibrary.org/obo/NCIT_C67251 million cells per microliter http://purl.obolibrary.org/obo/UO_0000316 cells per microliter A unit of cell concentration expressed as a number of cells in millions per unit volume equal to one microliter. http://purl.obolibrary.org/obo/NCIT_C67376 IU/L http://purl.obolibrary.org/obo/UO_0000051 Concentration Unit Unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one liter of the system volume. http://purl.obolibrary.org/obo/NCIT_C68615 Birth Date http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The calendar date on which a person was born. http://purl.obolibrary.org/obo/NCIT_C69256 Subject Unique Identifier http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A unique identifier for a subject in a study. http://purl.obolibrary.org/obo/NCIT_C78393 Iron Overload http://purl.obolibrary.org/obo/SCDO_0002674 Abnormality of Metabolism/Homeostasis Accumulation of iron in the tissues. It may be a manifestation of an inherited disorder (e.g., hemochromatosis) or acquired (in patients with repeated blood transfusions). Symptoms include hepatomegaly, arthritis, diabetes mellitus, and bronzed skin. If untreated it has a progressive course and may lead to death. http://purl.obolibrary.org/obo/NCIT_C78598 Posterior Reversible Leukoencephalopathy http://purl.obolibrary.org/obo/HP_0012638 Abnormal Nervous System Physiology An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. http://purl.obolibrary.org/obo/NCIT_C78638 Thrombus in Catheter http://purl.obolibrary.org/obo/NCIT_C78254 Device Complication The development of a blood clot in a catheter. http://purl.obolibrary.org/obo/NCIT_C79903 Blood Smear http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A sample of blood applied in a thin film to a microscope slide for study under a microscope. http://purl.obolibrary.org/obo/NCIT_C80411 Right Heart Catheterization http://purl.obolibrary.org/obo/SCDO_0000500 Heart Function Test A diagnostic procedure in which a catheter is guided into the right heart, where pressures may be measured and radiocontrast material may be injected to visualize blood flow in and around the right heart. http://purl.obolibrary.org/obo/NCIT_C81229 Alcohol Use History http://purl.obolibrary.org/obo/SCDO_0001120 Substance Use History A description of an individual's current and past experience with alcoholic beverage consumption. http://purl.obolibrary.org/obo/NCIT_C81262 Medical Record Number http://purl.obolibrary.org/obo/NCIT_C69256 Subject Unique Identifier An identifying number within an institution that is used to reference a subject's medical information. http://purl.obolibrary.org/obo/NCIT_C141366 Hemoglobin Lepore Syndrome http://purl.obolibrary.org/obo/SCDO_0000343 Delta Beta Thalassemia A rare autosomal recessive hemoglobinopathy, caused by the presence of two deltabeta globin fusion chains, which occurs due to a crossover between the delta (HBD) and beta globin (HBB) gene loci during meiosis. http://purl.obolibrary.org/obo/ARO_0000006 Erythromycin http://purl.obolibrary.org/obo/NCIT_C258 Antibiotic Erythromycin is a macrolide antibiotic with a 14-carbon ring that has an antimicrobial spectrum similar to or slightly wider than that of penicillin, and is often used for people that have an allergy to penicillins. Erythromycin may possess bacteriocidal activity, particularly at higher concentrations by binding to the 50S subunit of the bacterial 70S rRNA complex, inhibiting peptidyl-tRNA translocation. Thus, protein synthesis and subsequently structure/function processes critical for life or replication are inhibited. http://purl.obolibrary.org/obo/ARO_0000054 Penicillin http://purl.obolibrary.org/obo/NCIT_C258 Antibiotic Penicillin (sometimes abbreviated PCN) is a beta-lactam antibiotic used in the treatment of bacterial infections caused by susceptible, usually Gram-positive, organisms. It works by inhibiting the synthesis of the peptidoglycan layer of bacterial cell walls. The peptidoglycan layer is important for cell wall structural integrity, especially in Gram-positive organisms. http://purl.obolibrary.org/obo/ARO_0000064 Amoxycillin http://purl.obolibrary.org/obo/ARO_0000054 Penicillin Amoxicillin is a moderate-spectrum, bacteriolytic, beta-lactam antibiotic used to treat bacterial infections caused by susceptible microorganisms. A derivative of penicillin, it has a wider range of treatment but remains relatively ineffective against Gram-negative bacteria. It is commonly taken with clavulanic acid, a beta-lactamase inhibitor. Like other beta-lactams, amoxicillin interferes with the synthesis of peptidoglycan. http://purl.obolibrary.org/obo/NCIT_C152089 Voxelotor http://purl.obolibrary.org/obo/CHEBI_23888 Drug An orally bioavailable modulator and stabilizer of sickle cell hemoglobin (HbS), with potential use in the treatment of sickle cell disease (SCD). Upon administration, voxelotor targets and covalently binds to the N-terminal valine of the alpha chain of HbS. This stabilizes HbS, thereby improving oxygen binding affinity. The binding of voxelotor to HbS prevents HbS polymerization, reduces sickling, decreases red blood cell (RBC) damage and increases the half-life of RBCs. This improves blood flow and decreases hemolytic anemia. http://purl.obolibrary.org/obo/SCDO_0000330 D57.80 Other sickle-cell disorders without crisis http://purl.obolibrary.org/obo/SCDO_0000329 D57.8 Other sickle-cell disorders - http://purl.obolibrary.org/obo/SCDO_0000024 deprecated-Adherence http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms The extent to which a person's behaviour - taking medications, following a diet and/or executing life style changes, corresponds to agreed recommendations by a health care provider. http://purl.obolibrary.org/obo/SCDO_0000122 Biological Disease Modifier http://purl.obolibrary.org/obo/SCDO_0000391 Disease Modifier A biological factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease. http://purl.obolibrary.org/obo/SCDO_0000616 Immunochemical Assay http://purl.obolibrary.org/obo/NCIT_C16723 Immunological Assay An assay that identifies a substance (especially a protein) by its action as an antigen. http://purl.obolibrary.org/obo/SCDO_0001206 Urinary Creatinine Test http://purl.obolibrary.org/obo/SCDO_0000676 Kidney Function Test A bioassay to measure urine concentration of creatinine, a muscle metabolite that is filtered out of blood by the kidneys. http://purl.obolibrary.org/obo/NCIT_C16723 Immunological Assay http://purl.obolibrary.org/obo/SCDO_0000120 Biochemical Assay Laboratory test involving interaction of antigens with specific antibodies. http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute http://purl.obolibrary.org/obo/SCDO_0001000 SCDO The distinguishing qualities or prominent aspects of an individual person. http://purl.obolibrary.org/obo/NCIT_C26548 Gene Product http://purl.obolibrary.org/obo/SCDO_0001000 SCDO A protein, RNA or a complex that contains proteins and/or RNA. http://purl.obolibrary.org/obo/NCIT_C2959 Complication http://purl.obolibrary.org/obo/HP_0000118 Abnormal Phenotype Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure. http://purl.obolibrary.org/obo/NCIT_C34941 Pregnancy Complication http://purl.obolibrary.org/obo/NCIT_C2959 Complication The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire http://purl.obolibrary.org/obo/SCDO_1000472 Data Standards An instrument consisting of a predetermined set of questions for a clinical or research assessment. http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer http://purl.obolibrary.org/obo/SCDO_1000472 Data Standards A statement (either spoken or written) that is made in reply to a clinical research assessment question. http://purl.obolibrary.org/obo/NCIT_C98805 Acquired Methemoglobinemia http://purl.obolibrary.org/obo/SCDO_0000753 Methemoglobinemia Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods. http://purl.obolibrary.org/obo/NCIT_C122931 Imaging Transcranial Doppler Ultrasonography http://purl.obolibrary.org/obo/NCIT_C154865 Cerebral Blood Flow Assay A diagnostic technique that uses pulsed Doppler ultrasound to both identify blood vessels in the brain and measure the velocity of blood flow through those vessels. It allows a more accurate estimation of stroke risk because it allows outlining of parenchymal structures and visualization of the examined vessels. http://purl.obolibrary.org/obo/NCIT_C123446 Continuous Ambulatory ECG http://purl.obolibrary.org/obo/SCDO_0000500 Heart Function Test A continuous electrocardiographic (ECG) recording that utilizes one or more leads that both records and stores data directly to a device worn by the subject, such that the subject need not be restricted to a medical facility, and may be able to participate in their customary activities of daily living. http://purl.obolibrary.org/obo/NCIT_C123667 Global Mental Status Screener - Adult http://purl.obolibrary.org/obo/SCDO_0000455 Global Mental Status Screener A standardized rating scale developed by Ziad Nasreddine in 1996 to screen for mild cognitive dysfunction and impairment. This instrument assesses the following cognitive domains: attention and concentration, executive functions, memory, language, visuoconstructional skills, conceptual thinking, calculations, and orientation http://purl.obolibrary.org/obo/NCIT_C124059 Pulmonary Consolidation http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology A chest X-ray finding indicating the presence of a radio-opaque area in the lung. The opacification is caused by fluid or solid material within the airways or lung parenchyma. http://purl.obolibrary.org/obo/NCIT_C124065 Hepatic Iron Concentration http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement A measurement of the concentration of iron in the liver as an estimate of body iron load. http://purl.obolibrary.org/obo/NCIT_C124475 Mid Upper Arm Circumference http://purl.obolibrary.org/obo/CMO_0000021 Body Morphological Measurement A circumferential measurement of the largest part of the upper arm. http://purl.obolibrary.org/obo/NCIT_C28421 Sex http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The totality of characteristics of reproductive structure, functions, phenotype, and genotype, differentiating the male from the female organism. http://purl.obolibrary.org/obo/NCIT_C71746 Vascular Access Device Complications http://purl.obolibrary.org/obo/NCIT_C78254 Device Complication Difficulties related to an apparatus used to gain access to arteries and veins. http://purl.obolibrary.org/obo/NCIT_C74954 Liver Function Test http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay The quantitative measurement of liver enzymes in the blood, which is useful in assessing the functional state of a patient's liver. Liver function tests include the measurement of albumin, alanine transaminase, aspartate transaminase, alkaline phosphatase, bilirubin, and gamma glutamyl transferase. http://purl.obolibrary.org/obo/NCIT_C15238 Gene Therapy http://purl.obolibrary.org/obo/SCDO_0000301 Curative Therapeutics Application of genetic material (usually DNA) into cells in order to permanently correct an inherited disease or acquired disease. http://purl.obolibrary.org/obo/NCIT_C15320 Study Design http://purl.obolibrary.org/obo/SCDO_0300005 Research Characteristics A plan detailing how a study will be performed in order to represent the phenomenon under examination, to answer the research questions that have been asked, and defining the methods of data analysis. Study design is driven by research hypothesis being posed, study subject/population/sample available, logistics/resources: technology, support, networking, collaborative support, etc. http://purl.obolibrary.org/obo/NCIT_C15709 Genetic Testing http://purl.obolibrary.org/obo/SCDO_0000448 Genetic Technique The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder. http://purl.obolibrary.org/obo/NCIT_C15900 Lifestyle Therapy http://purl.obolibrary.org/obo/SCDO_0001152 Therapeutics Therapy dealing with lifestyle management and includes: behavioral and dietary modifications, exercise, stress management, and addiction control. This therapy must be used as major adjunct to 'standard care' or be applied as alternative treatment to conventional medicine practices. http://purl.obolibrary.org/obo/NCIT_C2905 Bone Marrow Hyperplasia http://purl.obolibrary.org/obo/HP_0001871 Abnormality of Blood and Blood-Forming Tissues Increase in the number of hematopoietic cells in the bone marrow. It may involve all or individual hematopoietic cell lines. http://purl.obolibrary.org/obo/NCIT_C29107 IV fluids http://purl.obolibrary.org/obo/SCDO_0000922 Preventative Therapeutics A sterile liquid preparation infused into a vein. IV fluid is prescribed as a replacement of fluid, electrolytes, calories, vitamins, and other nutritional substances. In addition, IV fluids are used to administer blood products and medications such as chemotherapy. Examples of IV fluids include Normal Saline, Ringers Solution, and Lactated Ringers Solution. http://purl.obolibrary.org/obo/NCIT_C29719 Smoking History http://purl.obolibrary.org/obo/SCDO_0001120 Substance Use History A record of an individual's background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others. http://purl.obolibrary.org/obo/NCIT_C30142 History of Transfusion http://purl.obolibrary.org/obo/NCIT_C18772 Personal Medical History An account of all experiences related to the receipt of blood, WBC, platelets, and/or other blood components. http://purl.obolibrary.org/obo/NCIT_C61797 Ketamine http://purl.obolibrary.org/obo/CHEBI_23888 Drug A cyclohexanone derivative with analgesic and anesthetic properties. Although its mechanism of action is not well understood, ketamine appears exerts complex pharmacological actions including inhibition of biogenic amine uptake, binding to opioid receptors, and inhibition of N-methyl D-aspartate (NMDA) receptors. Because of the involvement of spinal NMDA receptors in the process of central sensitization, this agent may reduce pain perception and induce sedation. http://purl.obolibrary.org/obo/NCIT_C62005 Amitriptyline http://purl.obolibrary.org/obo/CHEBI_23888 Drug A derivative of dibenzocycloheptadiene and a tricyclic antidepressant. Amitriptyline inhibits the re-uptake of norepinephrine and serotonin by the presynaptic neuronal membrane in the central nervous system (CNS), thereby increasing the synaptic concentration of norepinephrine and serotonin. Due to constant stimulation to these receptors, amitriptyline may produce a downregulation of adrenergic and serotonin receptors, which may contribute to the antidepressant activity. http://purl.obolibrary.org/obo/NCIT_C48660 NA http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer Determination of a value is not relevant in the current context. http://purl.obolibrary.org/obo/NCIT_C64387 Millimole per Liter http://purl.obolibrary.org/obo/UO_0000051 Concentration Unit A unit of concentration (molarity unit) equal to one millimole of solute per liter of solution. http://purl.obolibrary.org/obo/NCIT_C64572 microgram per millilitre http://purl.obolibrary.org/obo/UO_0000180 Mass Per Unit Volume A metric unit of mass concentration defined as the concentration of one gram of a substance per unit volume of the mixture equal to one cubic meter. The concept also refers to the metric unit of mass density (volumic mass) defined as the density of a substance which mass equal to one gram occupies the volume of one cubic meter. http://purl.obolibrary.org/obo/NCIT_C64625 Pregabalin http://purl.obolibrary.org/obo/SCDO_0000809 Non Opioid A 3-isobutyl derivative of gamma-amino butyric acid (GABA) with anti-convulsant, anti-epileptic, anxiolytic, and analgesic activities. Although the exact mechanism of action is unknown, pregabalin selectively binds to alpha2delta (A2D) subunits of presynaptic voltage-dependent calcium channels (VDCCs) located in the central nervous system (CNS). Binding of pregabalin to VDCC A2D subunits prevents calcium influx and the subsequent calcium-dependent release of various neurotransmitters, including glutamate, norepinephrine, serotonin, dopamine, and substance P, from the presynaptic nerve terminals of hyperexcited neurons; synaptic transmission is inhibited and neuronal excitability is diminished. Pregabalin does not bind directly to GABA-A or GABA-B receptors and does not alter GABA uptake or degradation. http://purl.obolibrary.org/obo/NCIT_C64783 g/dL http://purl.obolibrary.org/obo/UO_0000180 Mass Per Unit Volume A unit of mass concentration defined as the concentration of one gram of a substance per unit volume of the mixture equal to one deciliter (100 milliliters). The concept also refers to the metric unit of mass density (volumic mass) defined as the density of substance which mass equal to one gram occupies the volume one deciliter. http://purl.obolibrary.org/obo/NCIT_C82909 Mild Anemia http://purl.obolibrary.org/obo/HP_0001903 Anemia Anemia not associated with symptoms of fatigue, headaches, palpitations, or shortness of breath. In asymptomatic anemia the hematocrit levels usually range from 32 to 35%. http://purl.obolibrary.org/obo/NCIT_C83031 Visit Date http://purl.obolibrary.org/obo/EUPATH_0000310 Information on Observation Details The date on which a visit occurred. http://purl.obolibrary.org/obo/NCIT_C84481 Hereditary Hemochromatosis http://purl.obolibrary.org/obo/NCIT_C78393 Iron Overload An inherited metabolic disorder characterized by iron accumulation in the tissues. http://purl.obolibrary.org/obo/NCIT_C84979 Hemoglobin Subunit Epsilon http://purl.obolibrary.org/obo/SCDO_1000012 Beta-Globin Family Members Hemoglobin subunit epsilon (147 aa, ~16 kDa) is encoded by the human HBE1 gene. This protein plays a role in the transport of oxygen to tissues of the embryo. http://purl.obolibrary.org/obo/NCIT_C84980 Hemoglobin Subunit Delta http://purl.obolibrary.org/obo/SCDO_1000012 Beta-Globin Family Members A type of polypeptide chain that when in combination with alpha globin polypeptide chains forms adult hemoglobin 2 (HbA2). HbA2 comprises around 3% of adult hemoglobin. Hemoglobin subunit delta (147 aa, ~16 kDa) is encoded by the human HBD gene. This protein plays a role in the transport of oxygen to tissues of the adult body. http://purl.obolibrary.org/obo/NCIT_C84983 Hemoglobin Subunit Beta http://purl.obolibrary.org/obo/SCDO_1000012 Beta-Globin Family Members Hemoglobin subunit beta (147 aa, ~16 kDa) is encoded by the human HBB gene. This protein plays a role in the transport of oxygen to tissues of the adult body. http://purl.obolibrary.org/obo/NCIT_C99042 Renal Vein Thrombosis http://purl.obolibrary.org/obo/HP_0001977 Abnormal Thrombosis The formation of a thrombus in the renal vein. http://purl.obolibrary.org/obo/GSSO_000109 Intersex http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer Intersex is an umbrella term with a complex history. It is usually used to refer to persons with congenital conditions which involve differences in the many intertwined processes of sexual development. http://purl.obolibrary.org/obo/SCDO_0000317 D57.20 Sickle-cell/Hb-C disease without crisis http://purl.obolibrary.org/obo/SCDO_0000316 D57.2 Sickle-cell/Hb-C disease - http://purl.obolibrary.org/obo/SCDO_0000072 Arteriovenous Malformation http://purl.obolibrary.org/obo/HP_0030680 Abnormal Cardiovascular System Morphology Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas. http://purl.obolibrary.org/obo/SCDO_0000521 deprecated Hemoglobin C-Beta Thalassemia http://purl.obolibrary.org/obo/SCDO_0000272 obsolete Compound Heterozygous Hemoglobinopathy 'A form of beta-thalassemia with a phenotype of mild to moderate hemolytic anemia. Patients are often asymptomatic but if present symptoms include anemia and enlarged spleen.' http://purl.obolibrary.org/obo/SCDO_0001765 Beta-Minus Thalassemia Mutation http://purl.obolibrary.org/obo/SCDO_0009731 Beta Thalassemia Mutation A mutation in the beta-globin gene, HBB, that results in reduced beta globin synthesis. http://purl.obolibrary.org/obo/SCDO_0001064 Sickle Cell Disease-S/O-Arab http://purl.obolibrary.org/obo/SCDO_1000163 Compound Heterozygous Sickle Cell Disease One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin O-Arab. It can cause anemia, repeated infections, and periodic episodes of pain and organ damage. http://purl.obolibrary.org/obo/SCDO_0000107 Beliefs About Causes of Illness http://purl.obolibrary.org/obo/SCDO_0000488 Health Beliefs Personal or collective understanding of what the causes (could be predisposing factors, enabling factors, precipitating factors, reinforcing factors, and/or risk factors) are of a certain illness. http://purl.obolibrary.org/obo/SCDO_0000966 Rapid Estimate of Adolescent Literacy in Medicine (REALM-Teen) http://purl.obolibrary.org/obo/SCDO_0000953 Quality of Life Measure The Rapid Estimate of Adolescent Literacy or REALM-Teen is a valid, reliable, easy-to-administer tool that will allow health professionals to screen youth in grades 6-12 for below-grade reading. The REALM-Teen is a reading recognition instrument, modeled after the Rapid Estimate of Adult Literacy in Medicine (REALM), the most commonly used tool to screen adults for low literacy in health care settings. The REALM-Teen is a reading recognition instrument which measures an individual's ability to pronounce words in ascending order of difficulty. All test words are commonly used adolescent health terms. http://purl.obolibrary.org/obo/SCDO_0000849 Arterial Oxygen Saturation http://purl.obolibrary.org/obo/CMO_0001324 Oxygen Saturation The amount of oxygen bound to hemoglobin in arterial blood expressed as a percentage of the maximal binding capacity, as determined by an arterial blood gas test. http://purl.obolibrary.org/obo/SCDO_1000315 Serum HDL Cholesterol Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A quantitative measurement of the amount of HDL cholesterol present in a sample of serum. http://purl.obolibrary.org/obo/SCDO_0006461 Acutely Severe Anemia http://purl.obolibrary.org/obo/HP_0001903 Anemia Aplasia or hemolysis may be precipitated by another illness/infection in sickle cell disease patients. Acutely severe anemia is defined as Hb < 5g/dl or a recent acute drop in HB > 2g/dl below the individual's steady state value. If no steady state value is available, it can be detected by the presence of acutely symptomatic anemia (i.e. tachycardia, cardiac failure, shock). http://purl.obolibrary.org/obo/SCDO_0000539 Hemoglobin Lepore Trait http://purl.obolibrary.org/obo/SCDO_0000551 Thalassemia Trait The inheritance of the gene for hemoglobin Lepore from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent. http://purl.obolibrary.org/obo/SCDO_0000780 deprecated Musculoskeletal System http://purl.obolibrary.org/obo/SCDO_0001336 from phenotype Anatomical system that consists of the muscular and skeletal systems. http://purl.obolibrary.org/obo/SCDO_1000157 Quality of Life Related Personal Attribute http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life The distinguishing qualities or prominent aspects of an individual person that have some relation with quality of life. http://purl.obolibrary.org/obo/SCDO_0000195 Causal Adverse Drug Event Due to SNP http://purl.obolibrary.org/obo/SCDO_0000194 Causal Adverse Drug Event Due to Genetic Predisposition A causal adverse drug event due to genetic predisposition that is specifically induced by SNP. http://purl.obolibrary.org/obo/SCDO_0000492 Health Records http://purl.obolibrary.org/obo/SCDO_0000738 Medical Records Health data accessible to the patient and others. http://purl.obolibrary.org/obo/SCDO_0000307 Current Marital Status http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The respondent's current marital status. http://purl.obolibrary.org/obo/CHMO_0001009 High-Performance Liquid Chromatography http://purl.obolibrary.org/obo/SCDO_1000577 Type of SCD Test Column chromatography where the mobile phase is a liquid, the stationary phase consists of very small particles and the inlet pressure is relatively high. http://purl.obolibrary.org/obo/CHMO_0002580 Colorimetric Test http://purl.obolibrary.org/obo/SCDO_0000120 Biochemical Assay A test which produces colour change in the sample. http://purl.obolibrary.org/obo/HP_0025435 Increased Lactate Dehydrogenase Level http://purl.obolibrary.org/obo/HP_0045040 Abnormal Lactate Dehydrogenase Level An elevated level of the enzyme lactate dehydrogenase in serum. http://purl.obolibrary.org/obo/NCIT_C102988 Patient Reported Outcomes Measurement Information System (PROMIS) http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument A project to develop standards for the collection and analysis of patient-reported health status data using a system of highly reliable, precise measures for physical, mental, and social well-being. Patients are asked a series of rigorously reviewed questions covering common domains and metrics across differing conditions and treatments. The questions can be administered in short forms or adaptively through computerized adaptive testing and reports can be generated to allow clinicians to better understand how treatments might affect the quality of life of their patients. http://purl.obolibrary.org/obo/NCIT_C103165 Subject Visit Type http://purl.obolibrary.org/obo/EUPATH_0000310 Information on Observation Details The kind of visit undertaken by the subject within a study, such as inpatient, outpatient, telephone, etc. http://purl.obolibrary.org/obo/NCIT_C103270 Waiver of Consent http://purl.obolibrary.org/obo/SCDO_1000462 Research Ethics Committee Decision The release from the requirement to obtain informed consent during a study that is granted by Human Subject Protection committee for a research institution for a protocol that is being reviewed by the Institutional Review Board. http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/SCDO_0001551 Ethnolinguistics A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. http://purl.obolibrary.org/obo/NCIT_C17049 Race http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. http://purl.obolibrary.org/obo/NCIT_C78652 Pediatric Quality of Life Inventory (PedsQL) http://purl.obolibrary.org/obo/SCDO_0000952 Quality of Life in Sickle Cell Disease Measure A parent report or patient self report for measuring health-related quality of life (HRQOL) in healthy children and adolescents and those with acute and chronic health conditions. The PedsQL Measurement Model uses a modular approach that integrates both generic core scales and disease-specific modules into one measurement system. (Copyright 1998-2008 James W. Varni, Ph.D.) http://purl.obolibrary.org/obo/NCIT_C113340 Secondary Amenorrhea http://purl.obolibrary.org/obo/HP_0000080 Abnormality of Reproductive System Physiology The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal. http://purl.obolibrary.org/obo/NCIT_C114300 Carboxyhemoglobin http://purl.obolibrary.org/obo/NCIT_C16676 Hemoglobin Hemoglobin where the heme group has formed a stable complex with carbon monoxide (CO). This complex is produced after CO has been inhaled or as a byproduct of hemoglobin, protoporphyrin or dichloromethane catabolism. The heme-CO complex is approximately 200 times more stable than heme-oxygen complexes. Thus, high levels of carboxyhemoglobin in the circulation can lead to tissue hypoxia and death. http://purl.obolibrary.org/obo/NCIT_C114714 Dialysis Membrane Reaction http://purl.obolibrary.org/obo/NCIT_C78254 Device Complication A severe hypersensitivity-like reaction occurring during dialysis due to exposure to the dialysis membrane. http://purl.obolibrary.org/obo/NCIT_C114717 Dialysis Catheter Fracture http://purl.obolibrary.org/obo/NCIT_C78254 Device Complication A crack or break in a dialysis catheter caused by material weakness or mechanical compression. http://purl.obolibrary.org/obo/NCIT_C116081 Dialysis Access Complication http://purl.obolibrary.org/obo/NCIT_C2959 Complication Any issue that arises as a consequence of a problem with a patient's dialysis access. http://purl.obolibrary.org/obo/NCIT_C16809 Magnetic Resonance Imaging http://purl.obolibrary.org/obo/OBI_0000185 Imaging Assay Imaging that uses radiofrequency waves and a strong magnetic field rather than x-rays to provide amazingly clear and detailed pictures of internal organs and tissues. The technique is valuable for the diagnosis of many pathologic conditions, including cancer, heart and vascular disease, stroke, and joint and musculoskeletal disorders. http://purl.obolibrary.org/obo/NCIT_C27088 Hyperbilirubinemia http://purl.obolibrary.org/obo/HP_0032180 Abnormal Circulating Metabolite Concentration Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. http://purl.obolibrary.org/obo/NCIT_C2890 Bacterial Infection http://purl.obolibrary.org/obo/IDO_0000586 Infection An acute infectious disorder caused by gram positive or gram negative bacteria. Representative examples include pneumococcal, streptococcal, salmonella and meningeal infections. http://purl.obolibrary.org/obo/NCIT_C29091 Hepatitis B Vaccine http://purl.obolibrary.org/obo/VO_0000001 Vaccine A non-infectious mixture containing recombinant hepatitis B surface antigen (HBsAg) in a liquid vehicle. Immunization with the hepatitis B vaccine induces the formation of specific anti-hepatitis B antibodies and an active immunity against hepatitis B infection. http://purl.obolibrary.org/obo/NCIT_C3890 Hypoxia http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the Respiratory System A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). In SCD patients, this is considered as saturated oxygen < 95% on air. http://purl.obolibrary.org/obo/NCIT_C49131 Diagnostic Histology Test http://purl.obolibrary.org/obo/SCDO_0000902 Physiological Assay A diagnostic test used to examine and define microscopic tissue structure, composition, or etiology. The test results are often used by a clinician to diagnose disease or disordered function. http://purl.obolibrary.org/obo/NCIT_C519 Gentamicin http://purl.obolibrary.org/obo/NCIT_C258 Antibiotic A broad-spectrum aminoglycoside antibiotic produced by fermentation of Micromonospora purpurea or M. echinospora. Gentamicin is an antibiotic complex consisting of four major (C1, C1a, C2, and C2a) and several minor components. This agent irreversibly binds to the bacterial 30S ribosomal subunit. Specifically, this antibiotic is lodged between 16S rRNA and S12 protein within the 30S subunit. This leads to interference with translational initiation complex, misreading of mRNA, thereby hampering protein synthesis and resulting in bactericidal effect. Aminoglycosides are mostly ineffective against anaerobic bacteria, fungi and viruses. http://purl.obolibrary.org/obo/NCIT_C78254 Device Complication http://purl.obolibrary.org/obo/NCIT_C2959 Complication Any problem arising from the use of a medical device. http://purl.obolibrary.org/obo/NCIT_C92853 Postpartum Hemorrhage http://purl.obolibrary.org/obo/NCIT_C34941 Pregnancy Complication Hemorrhage defined as a blood loss in excess of 500 mL after vaginal delivery or more than 1000 mL after a cesarean delivery. http://purl.obolibrary.org/obo/NCIT_C126120 Oxygenated Hemoglobin http://purl.obolibrary.org/obo/NCIT_C16676 Hemoglobin Hemoglobin where the heme group has formed a reversible complex with oxygen (O2) in the lungs. This molecule is found in the systemic arteries and transports O2 from the lungs to the tissues where it is readily released. http://purl.obolibrary.org/obo/NCIT_C126121 Deoxygenated Hemoglobin http://purl.obolibrary.org/obo/NCIT_C16676 Hemoglobin Hemoglobin containing a heme group that is not bound to oxygen (O2). This molecule is normally found in the systemic veins following transit through capillaries and release of O2 into the tissues. Excess deoxyhemoglobin can be associated with hypoxia. http://purl.obolibrary.org/obo/NCIT_C1643 Polyvalent Pneumococcal Vaccine http://purl.obolibrary.org/obo/VO_0000675 Streptococcus Pneumoniae Vaccine An polyvalent vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal polyvalent vaccine contains highly purified capsular antigens from the 23 most prevalent or invasive pneumococcal types of Streptococcus pneumoniae to ensure cross-protection. Following vaccination, protective capsular type-specific antibody levels typically develop by the third week; serotype-specific antibody levels generally decline after 5-10 years. http://purl.obolibrary.org/obo/NCIT_C16453 Community http://purl.obolibrary.org/obo/SCDO_0001082 Social Environment A set of people with some shared element. The substance of shared element varies widely, from geography to a situation to interest to lives and values. The term is widely used to evoke sense of collectivity. http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The statistical characterization of human populations or segments of human populations (e.g., characterization by age, sex, race, or income). http://purl.obolibrary.org/obo/NCIT_C16567 Exercise http://purl.obolibrary.org/obo/NCIT_C15900 Lifestyle Therapy Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness. http://purl.obolibrary.org/obo/NCIT_C16576 Female http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. http://purl.obolibrary.org/obo/NCIT_C17004 Genetic Polymorphism http://purl.obolibrary.org/obo/SCDO_0001369 Genetic Variation The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site to large nucleotide sequences visible at a chromosomal level. http://purl.obolibrary.org/obo/NCIT_C17047 Quality of Life http://purl.obolibrary.org/obo/SCDO_0000950 Quality of Life and Care The subjective measurement of an individual's sense of well-being and ability to enjoy life. The concept holds varying meanings for different people and may evolve over time. For some individuals it implies autonomy, empowerment, capability, and choice; for others, security, social integration, or freedom from stress or illness. http://purl.obolibrary.org/obo/NCIT_C17357 Gender http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes. http://purl.obolibrary.org/obo/NCIT_C17655 Reproductive History http://purl.obolibrary.org/obo/NCIT_C18772 Personal Medical History An account of all reproductive events and problems a person has experienced. An important aggregate factor in epidemiological studies of women's health. The concept usually includes the number and timing of pregnancies and their outcomes, the incidence of breast feeding, and may include age of menarche and menopause, regularity of menstruation, fertility, gynecological or obstetric problems, or contraceptive usage. http://purl.obolibrary.org/obo/NCIT_C17873 Psychosocial Effect http://purl.obolibrary.org/obo/SCDO_0000746 Mental Health Having to do with the physical, psychological, cognitive, and social consequences of disease, including stigmatization of persons affected. http://purl.obolibrary.org/obo/NCIT_C18133 Missense Mutation http://purl.obolibrary.org/obo/NCIT_C62200 Point Mutation A single base pair substitution that alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense mutations will alter the function of the protein. http://purl.obolibrary.org/obo/NCIT_C18772 Personal Medical History http://purl.obolibrary.org/obo/SCDO_1000157 Quality of Life Related Personal Attribute A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies. http://purl.obolibrary.org/obo/NCIT_C19228 Optical Instrument http://purl.obolibrary.org/obo/OBI_0400169 Microscope An instrument used to measure an event involving emission, absorption, or refraction of light. http://purl.obolibrary.org/obo/NCIT_C19296 Deletion Mutation http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions. http://purl.obolibrary.org/obo/NCIT_C39796 Ethics http://purl.obolibrary.org/obo/SCDO_0006339 Research The philosophical study of moral values and rules. Ethics is a general term for what is often described as the "science of morality". The Western tradition of ethics is sometimes called moral philosophy. This is one of the three major branches of philosophy, alongside metaphysics and logic. http://purl.obolibrary.org/obo/NCIT_C62200 Point Mutation http://purl.obolibrary.org/obo/IDOMAL_50000026 Mutation A small scale mutation caused by the substitution of a single nucleotide for another nucleotide. http://purl.obolibrary.org/obo/NCIT_C96391 Meningococcal Conjugate Vaccine MCV4 http://purl.obolibrary.org/obo/VO_0000001 Vaccine A conjugate vaccine of meningococcal polysaccharide used for active immunization against invasive meningococcal disease caused by Neisseria meningiditis serogroups A, C, Y, and W-135. http://purl.obolibrary.org/obo/NCIT_C97120 Pneumococcal 10-Valent Conjugate Vaccine http://purl.obolibrary.org/obo/NCIT_C97123 Conjugate Pneumococcal Vaccine An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It is indicated for disease caused by serotypes 1, 5, 4, 6B, 7, 9V, 14, 18C, 19F, and 23F. http://purl.obolibrary.org/obo/NCIT_C97121 Pneumococcal 13-Valent Conjugate Vaccine http://purl.obolibrary.org/obo/NCIT_C97123 Conjugate Pneumococcal Vaccine A pneumococcal conjugate vaccine containing 13 different strains of the bacterium Streptococcus pneumoniae, used in children and studied in immunocompromised patients for the prevention of pneumococcal disease. The pneumococcal 13-valent conjugate vaccine contains capsular antigen polysaccharides derived from the S. pneumoniae serotypes 1, 3, 4, 5, 6A, 6B, 7F, 9V, 14, 18C, 19A, 19F and 23F that are individually conjugated to a nontoxic diphtheria cross-reactive material (CRM) carrier protein (CRM197). Upon vaccination, pneumococcal 13-valent conjugate vaccine induces active immunization against 13 different serotypes of S. pneumoniae and protects against pneumococcal disease. http://purl.obolibrary.org/obo/NCIT_C98835 Sickle Cell Disease-S Beta Zero Thalassemia http://purl.obolibrary.org/obo/NCIT_C95539 Sickle Beta Thalassemia A form of sickle cell thalassemia characterized by the absence of hemoglobin A. Patients usually have severe anemia identical to that seen in sickle cell disease. http://purl.obolibrary.org/obo/SCDO_0000685 Leg Ulcer http://purl.obolibrary.org/obo/HP_0200042 Skin Ulcer Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (varicose ulcer), 5% to arterial disease, and the remaining 5% to other causes. http://purl.obolibrary.org/obo/SCDO_1000320 Cigarette Smoking Status Diagnostic Instrument - Adult http://purl.obolibrary.org/obo/SCDO_1000319 Cigarette Smoking Status Diagnostic Instrument Questions asking an adult respondent about smoking status in his or her entire life. http://purl.obolibrary.org/obo/SCDO_0000505 Hematology Screening Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A test to detect potential blood disorders or diseases in people who do not have any symptoms of disease. http://purl.obolibrary.org/obo/SCDO_0001041 Seroepidemiologic Studies http://purl.obolibrary.org/obo/SCDO_0000437 Epidemiologic Studies Epidemiologic studies based on the detection through serological testing of characteristic change in the serum level of specific antibodies. Latent subclinical infections and carrier states can thus be detected in addition to clinically overt cases. http://purl.obolibrary.org/obo/SCDO_0000424 Electrophoresis http://purl.obolibrary.org/obo/SCDO_0000216 Chemical Assay An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current. http://purl.obolibrary.org/obo/DOID_0111033 African Iron Overload http://purl.obolibrary.org/obo/SCDO_1000281 Secondary Hemochromatosis A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. http://purl.obolibrary.org/obo/HP_0020054 Abnormal Erythrocyte Physiology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of Blood and Blood-Forming Tissues Any functional abnormality of erythrocytes (red-blood cells). http://purl.obolibrary.org/obo/HP_0032180 Abnormal Circulating Metabolite Concentration http://purl.obolibrary.org/obo/MP_0009642 Abnormal Blood Homeostasis An abnormal level of an analyte measured in the blood. http://purl.obolibrary.org/obo/SCDO_0000466 Haptoglobin Blood Test http://purl.obolibrary.org/obo/SCDO_0000133 Blood Test A bioassay to measure haptoglobin, which is produced by the liver and transports hemoglobin to the liver for recycling. http://purl.obolibrary.org/obo/SCDO_0000073 Artesunate http://purl.obolibrary.org/obo/SCDO_0001129 Supportive Therapeutics A water-soluble, semi-synthetic derivative of the sesquiterpene lactone artemisinin with anti-malarial, anti-schistosomiasis, antiviral, and potential anti-neoplastic activities. http://purl.obolibrary.org/obo/SCDO_0001135 Acute Sickle Cell Crisis http://purl.obolibrary.org/obo/SCDO_1000000 Acute Phenotype Refers to a worsening, over a short period of time, of the symptoms and signs of SCD; usually associated with pain and/or shortage of blood (anaemia). Can be suspected in a person with sickle cell disease who presents with a sudden onset of pain, infection, anemia or other symptoms such as stroke or priapism. Acute pain frequently occurs spontaneously, but may be precipitated by infections, skin cooling, dehydration or stress. http://purl.obolibrary.org/obo/ICO_0000157 Parental Consent http://purl.obolibrary.org/obo/SCDO_0007087 Informed Consent An informed consent by the parent/guardian of a child or a minor to consent to give permission for the child/minor to be included in research. http://purl.obolibrary.org/obo/HP_0500015 Abnormal Cardiac Test http://purl.obolibrary.org/obo/HP_0001626 Abnormality of Cardiovascular System Abnormal test result of cardiovascular physiology. http://purl.obolibrary.org/obo/HP_0020058 Abnormal Red Blood Cell Count http://purl.obolibrary.org/obo/HP_0001877 Abnormal Erythrocyte Morphology Any deviation from the normal number of red blood cells per volume in the circulation. http://purl.obolibrary.org/obo/HP_0020059 Increased Red Blood Cell Count http://purl.obolibrary.org/obo/HP_0020058 Abnormal Red Blood Cell Count An abnormal elevation above the normal number of red blood cells per volume in the circulation. http://purl.obolibrary.org/obo/HP_0020060 Decreased Red Blood Cell Count http://purl.obolibrary.org/obo/HP_0020058 Abnormal Red Blood Cell Count An abnormal reduction below the normal number of red blood cells per volume in the circulation. http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration http://purl.obolibrary.org/obo/SCDO_0009613 Protein Phenotype Any deviation from the normal concentration of hemoglobin in the blood. http://purl.obolibrary.org/obo/HP_0020062 Decreased Hemoglobin Concentration http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration An abnormal reduction below normal hemoglobin concentration in the circulation. http://purl.obolibrary.org/obo/HP_0020063 Increased Hemoglobin Concentration http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hemoglobin Concentration An abnormal elevation above normal hemoglobin concentration in the circulation. http://purl.obolibrary.org/obo/OPMI_0000023 Yes http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer An answer to question where the answer is Yes. http://purl.obolibrary.org/obo/OPMI_0000024 No http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer An answer to question where the answer is No. http://purl.obolibrary.org/obo/OPMI_0000025 Do Not Know http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer An answer to question that indicates the response to the specified question is unknown. http://purl.obolibrary.org/obo/OPMI_0000027 Refused http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer An answer to question where one declines to answer the specified question. http://purl.obolibrary.org/obo/OPMI_0000028 Other http://purl.obolibrary.org/obo/NCIT_C91106 Clinical or Research Assessment Answer An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box http://purl.obolibrary.org/obo/SCDO_1000342 History of Transfusion Diagnostic Instrument http://purl.obolibrary.org/obo/NCIT_C91105 Clinical or Research Assessment Questionnaire A questionnaire to assess history of transfusion. http://purl.obolibrary.org/obo/SCDO_0001034 Self Care http://purl.obolibrary.org/obo/SCDO_0000978 Rehabilitation Caring for self when ill or positive actions and adopting behaviors to prevent illness. http://purl.obolibrary.org/obo/SCDO_0001061 Sickle Cell Disease-S/D-Punjab http://purl.obolibrary.org/obo/NCIT_C155310 Sickle Cell Disease-SD A rare compound heterozygous hemoglobinopathy characterised by the presence of two beta globin gene variants: that of hemoglobin S (beta-6(GAG-->GTG)) and that of hemoglobin D-Punjab (beta-121(GAA-->CAA)). http://purl.obolibrary.org/obo/NCIT_C38085 Pulse Oximetry http://purl.obolibrary.org/obo/SCDO_0000942 Pulmonary Function Test A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin. http://purl.obolibrary.org/obo/NCIT_C38141 Pneumococcal 7-Valent Conjugate Vaccine http://purl.obolibrary.org/obo/NCIT_C97123 Conjugate Pneumococcal Vaccine An active immunizing agent used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal 7-valent conjugate vaccine consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F individually conjugated to diphtheria CRM 197 protein. http://purl.obolibrary.org/obo/NCIT_C3833 Asymptomatic http://purl.obolibrary.org/obo/OGMS_0000023 Phenotype Without clinical signs or indications that raise the possibility of a particular disorder or dysfunction. http://purl.obolibrary.org/obo/NCIT_C38698 Hyperviscosity http://purl.obolibrary.org/obo/HP_0001871 Abnormality of Blood and Blood-Forming Tissues An increase in the viscosity of blood resulting from an increase in the proportion of cellular elements of the blood, a change in the mechanical properties of the cellular elements of the blood, and/or an alteration in plasma viscosity. http://purl.obolibrary.org/obo/NCIT_C39547 Treatment Efficacy http://purl.obolibrary.org/obo/NCIT_C43646 Association The probability of benefit to individuals in a defined population from a medical technology applied for a given medical problem under ideal conditions of use. Efficacy is a measure of effect of therapy among appropriate patients in whom treatment is tolerated and effectively administered, under the condition of sufficient patients' compliance, usually determined in randomized trials. http://purl.obolibrary.org/obo/NCIT_C40438 Beck Depression Inventory-II (BDI-II) http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument The BDI-II is the most widely used instrument for measuring depression. It consists of 21 items to assess the intensity of depression in clinical and normal patients. Each item is a list of four statements arranged in increasing severity about a particular symptom of depression, and rated on a scale of 0 to 3. http://purl.obolibrary.org/obo/NCIT_C40978 Telephone Number http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network. http://purl.obolibrary.org/obo/NCIT_C95534 Hemoglobin Trait http://purl.obolibrary.org/obo/SCDO_0000552 Hemoglobinopathy A condition in which a person is heterozygous for a globin gene, with one normal allele and one defective allele. http://purl.obolibrary.org/obo/NCIT_C97123 Conjugate Pneumococcal Vaccine http://purl.obolibrary.org/obo/VO_0000675 Streptococcus Pneumoniae Vaccine An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes individually conjugated to proteins. http://purl.obolibrary.org/obo/NCIT_C92755 Chorionic Villus Sampling http://purl.obolibrary.org/obo/SCDO_0000919 Prenatal Screening for Sickle Cell The biopsy of placental tissue containing the chorionic villi from the maternal uterus in early pregnancy to diagnose fetal genetic defects. http://purl.obolibrary.org/obo/SCDO_0000098 Bacteria http://purl.obolibrary.org/obo/OBI_0000925 Infectious Agent One of the three domains of life (the others being Eukarya and ARCHAEA), also called Eubacteria. They are unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. Bacteria can be classified by their response to oxygen: aerobic, anaerobic, or facultatively anaerobic; by the mode by which they obtain their energy: chemotrophy (via chemical reaction) or phototrophy (via light reaction); for chemotrophs by their source of chemical energy: chemolithotrophy (from inorganic compounds) or chemoorganotrophy (from organic compounds); and by their source for carbon; nitrogen; etc.; heterotrophy (from organic sources) or autotrophy (from carbon dioxide). They can also be classified by whether or not they stain (based on the structure of their cell walls) with crystal violet dye: gram-negative or gram-positive. http://purl.obolibrary.org/obo/SCDO_0000728 Diagnostic Measurement http://purl.obolibrary.org/obo/SCDO_0000379 Diagnostics An information entity used in the diagnosis of medical conditions. It could be the recording of the output of a diagnostic device or the outcome of a diagnostic tool. http://purl.obolibrary.org/obo/SYMP_0000412 Anxiety http://purl.obolibrary.org/obo/SCDO_0000954 Quality of Life Related SCD Symptoms and Complications A neurological and physiological symptom characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill. http://purl.obolibrary.org/obo/SYMP_0019161 Muscle Pain http://purl.obolibrary.org/obo/SCDO_0000851 Pain Muscle pain is a pain characterized by pain in one or more muscles. http://purl.obolibrary.org/obo/VO_0000675 Streptococcus Pneumoniae Vaccine http://purl.obolibrary.org/obo/VO_0000001 Vaccine A Streptococcal vaccine that is used against S. pneumoniae infection, which causes pneumococcal diseases. http://purl.obolibrary.org/obo/ICO_0000036 Date of Signing Consent http://purl.obolibrary.org/obo/SCDO_1000522 Temporal Observable of Consent A date specification that designates when an informed consent form was signed. http://purl.obolibrary.org/obo/NCIT_C41129 deprecated Region http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms An area or portion of something with more or less definite boundaries designed or specified according to some established biological, administrative, economic, demographic, etc. criteria. http://purl.obolibrary.org/obo/NCIT_C42559 Degree Celsius http://purl.obolibrary.org/obo/UO_0000005 Temperature Unit A unit of temperature of the temperature scale designed so that the freezing point of water is 0 degrees and the boiling point is 100 degrees at standard atmospheric pressure. The current official definition of the Celsius sets 0.01 C to be at the triple point of water and a degree to be 1/273.16 of the difference in temperature between the triple point of water and absolute zero. One degree Celsius represents the same temperature difference as one Kelvin. http://purl.obolibrary.org/obo/NCIT_C62198 Nonsense Mutation http://purl.obolibrary.org/obo/NCIT_C62200 Point Mutation A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein. http://purl.obolibrary.org/obo/NCIT_C561 Ibuprofen http://purl.obolibrary.org/obo/CHEBI_35475 Non-Steroidal Anti-Inflammatory Drug A propionic acid derivate and nonsteroidal anti-inflammatory drug (NSAID) with anti-inflammatory, analgesic, and antipyretic effects. Ibuprofen inhibits the activity of cyclo-oxygenase I and II, resulting in a decreased formation of precursors of prostaglandins and thromboxanes. This leads to decreased prostaglandin synthesis, by prostaglandin synthase, the main physiologic effect of ibuprofen. Ibuprofen also causes a decrease in the formation of thromboxane A2 synthesis, by thromboxane synthase, thereby inhibiting platelet aggregation. http://purl.obolibrary.org/obo/CMO_0002876 N-Terminal Pro-Brain Natriuretic Peptide Level http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement The amount of N-terminal (NT)-pro hormone BNP (Nppb) in a specified volume of blood. http://purl.obolibrary.org/obo/NCIT_C154481 Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me) http://purl.obolibrary.org/obo/SCDO_0000952 Quality of Life in Sickle Cell Disease Measure A patient-reported outcome measurement system designed to evaluate and monitor the physical, mental, and social well-being of adults with sickle cell disease. http://purl.obolibrary.org/obo/NCIT_C154865 Cerebral Blood Flow Assay http://purl.obolibrary.org/obo/SCDO_1000316 Blood Flow Test An evaluation of the perfusion of blood through the brain. http://purl.obolibrary.org/obo/NCIT_C155310 Sickle Cell Disease-SD http://purl.obolibrary.org/obo/SCDO_1000163 Compound Heterozygous Sickle Cell Disease A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin D mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease. http://purl.obolibrary.org/obo/NCIT_C155312 Sickle Cell Chronic Lung Disease http://purl.obolibrary.org/obo/SCDO_0000895 Phenotype of Sickle Cell Disease A pulmonary complication of sickle cell disease characterized by radiographic interstitial abnormalities and impaired pulmonary function. In severe cases, pulmonary hypertension is present. http://purl.obolibrary.org/obo/NCIT_C155932 Global Mental Status Screener - Older Children and Adolescents http://purl.obolibrary.org/obo/SCDO_0000455 Global Mental Status Screener A clinician-assessed rating of psychological and social functioning in children ages six to seventeen that was developed by Shaffer et al. in 1983. The numerical scale, which is an adaptation of the adult Global Assessment Scale (GAS) developed by Endicott et al in 1976, is scored from 0 to 100 based on behaviors and life situations that are applicable to children. http://purl.obolibrary.org/obo/HP_0025636 Endometritis http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the Genital System Local accumulation of fluid, plasma proteins, and leukocytes in the endometrium. http://purl.obolibrary.org/obo/SCDO_0000251 Clinical Phenotype of Beta Thalassemia http://purl.obolibrary.org/obo/SCDO_0000111 Beta Thalassemia Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://purl.obolibrary.org/obo/EUPATH_0021227 Blood Urea Concentration http://purl.obolibrary.org/obo/CMO_0000023 Blood Chemistry Measurement A scalar measurement datum of the concentration of urea in blood that is a specified output of a blood test. http://purl.obolibrary.org/obo/SCDO_1000050 Hemoglobin Genotype S/D-Punjab http://purl.obolibrary.org/obo/SCDO_1000054 Hemoglobin Genotype SD Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin D-Punjab (HBB Glu121Gln) variants. http://purl.obolibrary.org/obo/SCDO_0001111 Stroke http://purl.obolibrary.org/obo/SCDO_1000037 Abnormality of the Cerebral Vasculature A group of pathological conditions characterized by sudden loss of neurological function due to brain ischemia or intracranial hemorrhages. Stroke is classified by the type of tissue necrosis, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. http://purl.obolibrary.org/obo/SCDO_1000113 HBB, GLU22VAL http://purl.obolibrary.org/obo/SCDO_0002305 Hemoglobin D Disease Causal Mutation A mutation where the glutamic acid in position 22 in the primary sequence of a beta-chain produced by the HBB gene is replaced by valine. http://purl.obolibrary.org/obo/SCDO_0000423 Electronic Health Records http://purl.obolibrary.org/obo/SCDO_0000492 Health Records Media that facilitate transportability of pertinent information concerning patient's illness across varied providers and geographic locations. Some versions include direct linkages to online consumer health information that is relevant to the health conditions and treatments related to a specific patient. http://purl.obolibrary.org/obo/SCDO_1000297 Quality of Life and Care Diagnostic Instrument http://purl.obolibrary.org/obo/SCDO_1000033 Diagnostic Instrument A diagnostic instrument that involves an assessment of quality of life- and/or quality of care-related elements. http://purl.obolibrary.org/obo/SCDO_0000490 Health Insurance Coverage http://purl.obolibrary.org/obo/NCIT_C16495 Demographic Factor Whether the respondent is covered by health insurance or some other form of health care coverage at the time of the interview. http://purl.obolibrary.org/obo/SCDO_0000383 obsolete Diffusion Capacity by Biochemical Methods http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_0000516 deprecated Hemoglobin A2 Profile http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_0000542 obsolete - Hemoglobin M Trait http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_0001374 obsolete heterozygous beta c mutation http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_0001375 obsolete homozygous beta c mutation http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_1000212 deprecated Disease Caused by A/Jamaica Plain Genotype http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_1000213 deprecated Disease Caused by A/S-Oman Genotype http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_1000214 deprecated Disease Caused by C/S Antilles Genotype http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_1000234 obsolete - Hemoglobin M trait Genotype http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms http://purl.obolibrary.org/obo/SCDO_0000766 obsolete Modifying the Home Environment and Making it Safer For the Patient http://purl.obolibrary.org/obo/SCDO_1000035 from therapeutics http://purl.obolibrary.org/obo/SCDO_1000398 BCL11A Erythroid Enhancer http://purl.obolibrary.org/obo/SCDO_1000396 Gene Enhancer http://purl.obolibrary.org/obo/SCDO_1000479 deprecated Calculation Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000480 deprecated Checkbox Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000481 deprecated Descriptive Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000482 deprecated Dropdown Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000483 deprecated Dropdown Multiple Choice Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000484 deprecated Dropdown Single Choice Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000485 deprecated File Upload Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000486 deprecated Radio Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000487 deprecated Text Box Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000488 deprecated Notes Box Field Type http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000489 deprecated Slider - Visual Analog Scale http://purl.obolibrary.org/obo/SCDO_1000477 deprecated Field Type http://purl.obolibrary.org/obo/SCDO_1000763 Type of Body Temperature http://purl.obolibrary.org/obo/SCDO_1000576 Diagnostic Measurement Descriptor http://purl.obolibrary.org/obo/SCDO_1000768 Acide http://purl.obolibrary.org/obo/SCDO_1000577 Type of SCD Test http://purl.obolibrary.org/obo/SCDO_1000118 Dendi http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/SCDO_1000120 Yoa http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/SCDO_1000121 Betamaribe http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/SCDO_1000130 Peulh http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/SCDO_1000252 Increased Red Cell Osmotic Resistance http://purl.obolibrary.org/obo/HP_0020054 Abnormal Erythrocyte Physiology http://purl.obolibrary.org/obo/SCDO_0001000 SCDO Root of all terms in the Sickle Cell Disease Ontology, an effort of unambiguously describing all concepts and unifying up-to-date knowledge in sickle cell disease. http://purl.obolibrary.org/obo/SCDO_0000359 deprecated terms Terms that are no longer being used in the ontology. http://purl.obolibrary.org/obo/SCDO_0000031 age of onset modified by http://purl.obolibrary.org/obo/SCDO_1000005 modified by A relationship between a phenotype and a disease modifier, where the disease modifier modifies the age of onset of the phenotype. Age of onset is defined as "The age group in which disease manifestations appear." (HPO) http://purl.obolibrary.org/obo/SCDO_0000772 mortality modified by http://purl.obolibrary.org/obo/SCDO_1000005 modified by A relationship between a phenotype and a disease modifier, where the disease modifier modifies the mortality (due to the phenotype) of the SCD sufferer. http://purl.obolibrary.org/obo/SCDO_0001139 temporal pattern modified by http://purl.obolibrary.org/obo/SCDO_1000005 modified by A relationship between a phenotype and a disease modifier, where the disease modifier modifies the temporal pattern of the phenotype. Temporal pattern is defined as "The speed at which disease manifestations appear and develop." (HPO) http://purl.obolibrary.org/obo/SCDO_1000172 has causal genotype http://purl.obolibrary.org/obo/SCDO_0000660 caused or contributed to by A relation between a condition (hemoglobinopathy) and the genotype that causes the condition. http://purl.obolibrary.org/obo/SCDO_1000180 manifestation of http://purl.obolibrary.org/obo/RO_0002201 phenotype of A relationship that holds between a phenotype (i.e. manifestation) and a condition such as a disease (hemoglobinopathy), wherein the phenotype is evidence of the condition. http://purl.obolibrary.org/obo/SCDO_1000182 symptom of http://purl.obolibrary.org/obo/RO_0002201 phenotype of A relation between a phenotype that is a symptom (subjective evidence of disease perceived by the patient) and a disease. http://purl.obolibrary.org/obo/SCDO_1000184 contributes to genotype http://purl.obolibrary.org/obo/SCDO_1000183 causes or contributes to A relationship between an entity (e.g. genetic variation such as mutation or specific allele) and a genotype, where the entity contributes to the genotype. http://purl.obolibrary.org/obo/SCDO_1000196 has contributing genetic variation http://purl.obolibrary.org/obo/SCDO_0000660 caused or contributed to by A relation between a genotype and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation contributes to the genotype. http://purl.obolibrary.org/obo/SCDO_1000202 caused by http://purl.obolibrary.org/obo/SCDO_0000660 caused or contributed to by A relationship between a condition (a phenotype or disease) and an entity (e.g. environment) or condition (phenotype or disease) which could be an existing condition or an event, where the entity or second condition has a causal role for the condition being described. http://purl.obolibrary.org/obo/SCDO_1000210 has causal or contributing genetic variation http://purl.obolibrary.org/obo/SCDO_0000660 caused or contributed to by A relation between a condition (disease or phenotype) or an entity (molecular phenotype) and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation has some causal or contributing role that influences the condition or entity. http://purl.obolibrary.org/obo/SCDO_1000217 causes or contributes to molecular phenotype http://purl.obolibrary.org/obo/SCDO_1000183 causes or contributes to A relation between an entity (genotype) and a molecular phenotype, where the entity has some causal or contributing role that influences the molecular phenotype. http://purl.obolibrary.org/obo/SCDO_1000218 has manifestation http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a condition such as a disease (hemoglobinopathy) and a phenotype (i.e. manifestation), where the phenotype is evidence of the condition. http://purl.obolibrary.org/obo/SCDO_1000222 causes molecular phenotype http://purl.obolibrary.org/obo/SCDO_1000183 causes or contributes to A relation between a genotype and a molecular phenotype, where the genotype has a causal role for the molecular phenotype. http://purl.obolibrary.org/obo/SCDO_1000223 has causal molecular phenotype http://purl.obolibrary.org/obo/SCDO_0000660 caused or contributed to by A relation between a condition (disease such as a Hemoglobinopathy) and a molecular phenotype, where the molecular phenotype is evidence of the condition. http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/SCDO_1000183 causes or contributes to A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal or contributing role that influences the condition. http://purl.obolibrary.org/obo/RO_0003303 causes condition http://purl.obolibrary.org/obo/SCDO_1000183 causes or contributes to A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal role for the condition. http://purl.obolibrary.org/obo/RO_0003306 contributes to frequency of condition http://purl.obolibrary.org/obo/SCDO_1000015 modifies A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity influences the frequency of the condition in a population. http://purl.obolibrary.org/obo/RO_0003307 ameliorates condition http://purl.obolibrary.org/obo/SCDO_1000015 modifies A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the presence of the entity reduces or eliminates some or all aspects of the condition. http://purl.obolibrary.org/obo/RO_0003309 exacerbates condition http://purl.obolibrary.org/obo/SCDO_1000015 modifies A relationship between an entity (e.g. a chemical, environmental exposure, or some form of genetic variation) and a condition (a phenotype or disease), where the presence of the entity worsens some or all aspects of the condition. http://purl.obolibrary.org/obo/RO_0003310 condition ameliorated by http://purl.obolibrary.org/obo/SCDO_1000005 modified by A relationship between a condition (a phenotype or disease) and an entity (e.g. a chemical, environmental exposure, or some form of genetic variation) where some or all aspects of the condition are reduced or eliminated by the presence of the entity. http://purl.obolibrary.org/obo/RO_0003311 condition exacerbated by http://purl.obolibrary.org/obo/SCDO_1000005 modified by A relationship between a condition (a phenotype or disease) and an entity (e.g. a chemical, environmental exposure, or some form of genetic variation) where some or all aspects of the condition are worsened by the presence of the entity. http://purl.obolibrary.org/obo/RO_0002452 has symptom http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relation that holds between a disease or an organism and a phenotype that is a symptom (subjective evidence of disease perceived by the patient). http://purl.obolibrary.org/obo/SCDO_1000785 code requires phenotype A relationship between a clinical code (such as ICD10 code) and a Phenotype, where the code can only be applied in instances where the phenotype is present. http://purl.obolibrary.org/obo/SCDO_0000469 has clinical code A relationship between a condition (phenotype or disease) and a relevant ICD-10-CM Diagnosis Code. http://purl.obolibrary.org/obo/SCDO_0000474 has output measurement A relation between a device (diagnostic device) and the recording of the output (diagnostic measurement) of the device. http://purl.obolibrary.org/obo/SCDO_0000475 uses medical device A relation between a process (e.g. a form of therapy) and a medical device, where the medical device is used in the process. http://purl.obolibrary.org/obo/SCDO_0000660 caused or contributed to by A relationship between a condition (a phenotype or disease) and an entity (a genotype or genetic variation) where the entity has a causal role for the condition. http://purl.obolibrary.org/obo/SCDO_0000663 diagnosed using tool A relation between a phenotype that is a diagnosis and a diagnostic tool used in making the diagnosis. http://purl.obolibrary.org/obo/SCDO_0000664 treated with A relation between a condition (phenotype or disease) and a type of treatment or a specific treatment, where the condition can be treated with the treatment. http://purl.obolibrary.org/obo/SCDO_0001297 has essential measure A measure that is critical to the collection of the measure at hand or is necessary for the interpretation of results for the measure at hand. Without such information, the data collected would be incomplete or misleading. http://purl.obolibrary.org/obo/SCDO_0001364 has mode of inheritance A relation between a particular genotype or disorder and the pattern in which the particular genotype or disorder is passed from one generation to the next. http://purl.obolibrary.org/obo/SCDO_1000005 modified by A relationship between a condition (phenotype or disease), entity (aspect of quality of life) or process (therapy) and a disease modifier, where the condition, entity or process is modified by the disease modifier in some way. http://purl.obolibrary.org/obo/SCDO_1000015 modifies A relationship between a disease modifier and a condition (phenotype or disease), entity (aspect of quality of life) or process (therapy), where the disease modifier modifies the condition, entity or process in some way. http://purl.obolibrary.org/obo/SCDO_1000018 treats A relation between a type of treatment or a specific treatment and a condition (phenotype or disease), where the type of treatment or specific treatment treat the condition. http://purl.obolibrary.org/obo/SCDO_1000171 has diagnostic device A relation between a Diagnostic Tool (test, method, assay, etc.) or the Diagnostic Measurement obtained from such a tool and a specific Diagnostic Device, where the Diagnostic Device is used in the application of the Diagnostic Tool or to obtain the Diagnostic Measurement. http://purl.obolibrary.org/obo/SCDO_1000175 is ICD-10-CM code type An object property that specifies the type of an ICD-10-CM code, whether Billable or Non-Billable. http://purl.obolibrary.org/obo/SCDO_1000183 causes or contributes to A relationship between 'a' and 'b', where 'a' has some causal role for 'b'. http://purl.obolibrary.org/obo/SCDO_1000188 studied in A relation between a condition (Hemoglobinopathy) and a form of research (type of study) that the condition was studied in. http://purl.obolibrary.org/obo/SCDO_1000189 associated via A relation between a condition (disease or phenotype) and a type of linking association (e.g. age of onset association). http://purl.obolibrary.org/obo/SCDO_1000190 obtained via diagnostic tool A relationship between a diagnostic measurement and the diagnostic tool used to produce the measurement. http://purl.obolibrary.org/obo/SCDO_1000191 used by diagnostic tool A relationship between a diagnostic device and the diagnostic tool by which the device is used. http://purl.obolibrary.org/obo/SCDO_1000192 uses diagnostic device A relation between a diagnostic tool (test, method, assay, etc.) and a diagnostic device, where the diagnostic device is used in the application of the diagnostic tool. http://purl.obolibrary.org/obo/SCDO_1000193 output of diagnostic device A relation between a diagnostic measurement and a diagnostic device, where the diagnostic measurement is the output of the diagnostic device. http://purl.obolibrary.org/obo/SCDO_1000194 measures A relation between a diagnostic tool and the diagnostic measurement that it measures. http://purl.obolibrary.org/obo/SCDO_1000199 induced by A condition (phenotype or disease) or event (adverse event) induced by an entity (e.g. a drug) or activity (e.g. exercise). http://purl.obolibrary.org/obo/SCDO_1000203 has risk factor A relation between a condition (disease or phenotype) and an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of the condition. http://purl.obolibrary.org/obo/SCDO_1000219 diagnosed by A relation between a condition that is a diagnosis and a phenotype used in making the diagnosis. http://purl.obolibrary.org/obo/SCDO_1000220 diagnosed using measurement A relation between an Abnormal Phenotype that is a diagnosis and a Diagnostic Measurement or Diagnostic Device Visual Output used in making the diagnosis. http://purl.obolibrary.org/obo/SCDO_1000525 is question type A relationship between a Clinical or Research Assessment Data Element and a Clinical or Research Assessment Question Type. http://purl.obolibrary.org/obo/SCDO_1000526 has answer option A relationship between a multiple choice data element and an answer option or a group of answer options that are provided to the respondent by the data element. http://purl.obolibrary.org/obo/SCDO_1000528 collects A relationship between a data element and the type of information that is collected by that data element. http://purl.obolibrary.org/obo/SCDO_1000529 min number of selections allowed Records the minimum number of selections that a respondent is allowed to make from a list of multiple answer options provided for a data element. http://purl.obolibrary.org/obo/SCDO_1000771 has answer standard unit A relationship between a data element and the unit of measurement used, as a standard, for the information that is collected by the data element. http://purl.obolibrary.org/obo/SCDO_1000772 has possible finding A relationship between a Diagnostic Measurement and a Phenotype, where the Phenotype is a possible finding of the Diagnostic Measurement, depending on the value recorded for the Diagnostic Measurement. http://purl.obolibrary.org/obo/SCDO_1000773 diagnosed using finding A relationship between an Abnormal Phenotype that is a diagnosis of a condition and a Phenotype that is a finding from a Diagnostic Measurement, where the Phenotype that is a finding is used as evidence to diagnose patients with the Abnormal Phenotype that is a diagnosis. http://purl.obolibrary.org/obo/SCDO_1000776 has LLN male Used to record the lowest value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for males for a particular laboratory result or other quantitative parameter. http://purl.obolibrary.org/obo/SCDO_1000777 has LLN female Used to record the lowest value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for females for a particular laboratory result or other quantitative parameter. http://purl.obolibrary.org/obo/SCDO_1000778 has LLN pediatric Used to record the lowest value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for children for a particular laboratory result or other quantitative parameter. http://purl.obolibrary.org/obo/SCDO_1000779 has ULN male Used to record the top value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for males for a particular laboratory result or other quantitative parameter. http://purl.obolibrary.org/obo/SCDO_1000780 has ULN female Used to record the top value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for females for a particular laboratory result or other quantitative parameter. http://purl.obolibrary.org/obo/SCDO_1000781 has ULN pediatric Used to record the top value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for children for a particular laboratory result or other quantitative parameter. http://purl.obolibrary.org/obo/SCDO_1000782 has reference range standard unit A relationship between a Diagnostic Measurement and the Unit of Measurement used for the values provided by the data properties that specify upper (ULN) or lower (LLN) limit of normal for the Diagnostic Measurement. http://purl.obolibrary.org/obo/SCDO_1110663 in guideline A relation between an entity (phenotypic, therapeutic or diagnostic concept) and a guideline or directive. http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/SCDO_1000523 has LLN Used to record the lowest value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for particular laboratory result or other quantitative parameter. http://purl.obolibrary.org/obo/SCDO_1000204 risk factor for A relation between an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a condition and the condition (disease or phenotype) that it increases the likelihood of. http://purl.obolibrary.org/obo/SCDO_1000524 has ULN Used to record the top value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for particular laboratory result or other quantitative parameter. http://purl.obolibrary.org/obo/SCDO_1000530 max number of selections allowed Records the maximum number of selections that a respondent is allowed to make from a list of multiple answer options provided for a data element. http://purl.obolibrary.org/obo/RO_0002201 phenotype of Inverse of "has phenotype" object property. http://purl.obolibrary.org/obo/so#associated_with associated with