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363136009: Hereditary disorder of hematologic system (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    754926017 Hereditary disorder of hematologic system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1772661016 Hereditary disorder of haematologic system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1773998010 Hereditary disorder of hematologic system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Hereditary disorder of hematologic system Is a Hereditary disorder by system false Inferred relationship Some
    Hereditary disorder of hematologic system Finding site Entire hematological system (body structure) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Kongenit elliptocytose Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Selective malabsorption of cyanocobalamin Is a False Hereditary disorder of hematologic system Inferred relationship Some
    muskelphosphofructokinasemangel Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Uridine monophosphate hydrolase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Epsteins syndrom Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Pearson's syndrome Is a False Hereditary disorder of hematologic system Inferred relationship Some
    A rare lipoprotein metabolism disorder characterised clinically by corneal opacities and sometimes renal failure and haemolytic anaemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterised by corneal opacities, anaemia and renal insufficiency and Fish-eye disease characterised by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyses the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations. Is a False Hereditary disorder of hematologic system Inferred relationship Some
    hereditær non-sfærocytisk hæmolytisk anæmi forårsaget af aldolase A-mangel Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder) Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Chronic granulomatous disease Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary acanthocytosis Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditær methæmoglobinæmi, enzymatisk type Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary platelet function disorder Is a False Hereditary disorder of hematologic system Inferred relationship Some
    A bleeding disorder with characteristics of mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia. Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary stomatocytosis Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary coagulation factor deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Familial erythrocytosis Is a False Hereditary disorder of hematologic system Inferred relationship Some
    HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    HNSHA due to pyrimidine-5'-nucleotidase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Propionyl-CoA carboxylase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hand-Schüller-Christians sygdom Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Thalassemia Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary factor IX deficiency disease Is a False Hereditary disorder of hematologic system Inferred relationship Some
    HNSHA due to hexokinase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    HNSHA due to triosephosphate isomerase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    HNSHA due to NADH diaphorase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Phosphatidylcholin-sterol-acyltransferasemangel Is a False Hereditary disorder of hematologic system Inferred relationship Some
    HNSHA due to glutathione reductase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    HNSHA due to glucose phosphate isomerase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Peutz-Jeghers syndrome Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary spherocytosis Is a False Hereditary disorder of hematologic system Inferred relationship Some
    HNSHA due to phosphoglycerate kinase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary elliptocytosis due to deficiency of protein 4.1 Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hemolytic anemia with emphysema AND cutis laxa Is a False Hereditary disorder of hematologic system Inferred relationship Some
    HNSHA due to diphosphoglycerate mutase deficiency Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Glucose-6-phosphate dehydrogenase deficiency anemia Is a False Hereditary disorder of hematologic system Inferred relationship Some
    hereditær sideroblastanæmi Is a False Hereditary disorder of hematologic system Inferred relationship Some
    aminosyremangelanæmi Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Familial hemorrhagic diathesis Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary elliptocytosis due to beta spectrin defect in self-association Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder) Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary elliptocytosis due to abnormal protein 4.1 Is a False Hereditary disorder of hematologic system Inferred relationship Some
    X-linked lymphoproliferative syndrome Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary elliptocytosis due to alpha spectrin defect Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Congenital hypoplastic anemia Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary hypoplasminogenemia Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Hereditary dysplasminogenemia Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Acatalasemia Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Reticular dysgenesis (disorder) Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Severe combined immunodeficiency due to absent lymphoid stem cells (disorder) Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Severe combined immunodeficiency with reticular dysgenesis (disorder) Is a False Hereditary disorder of hematologic system Inferred relationship Some
    Chronic granulomatous disease (disorder) Is a False Hereditary disorder of hematologic system Inferred relationship Some
    familiær sea blue-histiocytose Is a False Hereditary disorder of hematologic system Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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