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32895009: Hereditary disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
54901018 Hereditary disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
54905010 Inherited disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
764232019 Hereditary disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

4104 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disease Is a Disease false Inferred relationship Some
Hereditary disease Is a Genetic disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary disease in family possibly affecting fetus Is a True Hereditary disease Inferred relationship Some
Genetic syndrome Is a False Hereditary disease Inferred relationship Some
Autosomal hereditary disorder Is a True Hereditary disease Inferred relationship Some
Hereditary retinal dystrophy Is a False Hereditary disease Inferred relationship Some
Hereditary choroidal dystrophy Is a False Hereditary disease Inferred relationship Some
Polygenic hereditary disorder Is a True Hereditary disease Inferred relationship Some
Sex-linked hereditary disorder Is a True Hereditary disease Inferred relationship Some
Connective tissue hereditary disorder (disorder) Is a False Hereditary disease Inferred relationship Some
Developmental hereditary disorder Is a True Hereditary disease Inferred relationship Some
Hereditary disorder by system Is a True Hereditary disease Inferred relationship Some
Inflammatory hereditary disorder Is a False Hereditary disease Inferred relationship Some
Mendelian disorders Is a True Hereditary disease Inferred relationship Some
Metabolic hereditary disorder Is a False Hereditary disease Inferred relationship Some
Inherited disorder of connective tissue Is a False Hereditary disease Inferred relationship Some
Sequelae of hereditary diseases Temporally follows False Hereditary disease Inferred relationship Some
Genetic counseling Has focus True Hereditary disease Inferred relationship Some 2
Inborn error of metabolism Is a True Hereditary disease Inferred relationship Some
Sequelae of hereditary diseases After True Hereditary disease Inferred relationship Some 1
Congenital elliptocytosis Is a False Hereditary disease Inferred relationship Some
Familial erythrocytosis Is a False Hereditary disease Inferred relationship Some
Thalassemia Is a False Hereditary disease Inferred relationship Some
Citrullinemia (disorder) Is a True Hereditary disease Inferred relationship Some
Hereditary acanthocytosis Is a False Hereditary disease Inferred relationship Some
Hereditary lymphedema Is a True Hereditary disease Inferred relationship Some
Family history of hereditary disease (situation) Associated finding False Hereditary disease Inferred relationship Some 1
Inherited platelet disorder Is a False Hereditary disease Inferred relationship Some
Hereditary hypoplasminogenemia Is a True Hereditary disease Inferred relationship Some
Hereditary dysplasminogenemia Is a True Hereditary disease Inferred relationship Some
Hereditary motor end-plate disease Is a False Hereditary disease Inferred relationship Some
Hereditary coagulation factor deficiency Is a True Hereditary disease Inferred relationship Some
Familial hemorrhagic diathesis Is a True Hereditary disease Inferred relationship Some
Family history of hereditary disease (situation) Associated finding True Hereditary disease Inferred relationship Some 1
Hereditary pancreatitis Is a False Hereditary disease Inferred relationship Some
Familial Mediterranean fever Is a False Hereditary disease Inferred relationship Some
Family history of hereditary disease (situation) Associated finding False Hereditary disease Inferred relationship Some 1
Fetus with hereditary disease Is a True Hereditary disease Inferred relationship Some
Inherited aminoaciduria Is a True Hereditary disease Inferred relationship Some
Hereditary cancer-predisposing syndrome Is a True Hereditary disease Inferred relationship Some
Suspected hereditary disease Associated finding True Hereditary disease Inferred relationship Some 1
Genetic counseling for heritable disorder with patient at risk Has focus True Hereditary disease Inferred relationship Some 1
Genetic counseling for heritable disorder with fetus at risk Has focus True Hereditary disease Inferred relationship Some 2
Congenital vascular malformation due to inherited syndrome (disorder) Due to True Hereditary disease Inferred relationship Some 2
Congenital dyserythropoietic anemia Is a False Hereditary disease Inferred relationship Some
Gingival disease due to genetic disorder (disorder) Due to True Hereditary disease Inferred relationship Some 1
Connective tissue hereditary disorder (disorder) Is a True Hereditary disease Inferred relationship Some
Syndactyly of fingers type 8 (disorder) Is a False Hereditary disease Inferred relationship Some
Growth delay due to insulin-like growth factor I resistance (disorder) Is a False Hereditary disease Inferred relationship Some
Postaxial polydactyly type A (disorder) Is a False Hereditary disease Inferred relationship Some
Postaxial polydactyly type B (disorder) Is a False Hereditary disease Inferred relationship Some
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) Is a False Hereditary disease Inferred relationship Some
Obesity due to melanocortin 4 receptor deficiency (disorder) Is a True Hereditary disease Inferred relationship Some
Familial thyroglossal duct cyst (disorder) Is a True Hereditary disease Inferred relationship Some
Inherited predisposition to essential thrombocythemia Is a False Hereditary disease Inferred relationship Some
Atypical Rett syndrome (disorder) Is a False Hereditary disease Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a False Hereditary disease Inferred relationship Some
Dianzani autoimmune lymphoproliferative disease (disorder) Is a False Hereditary disease Inferred relationship Some
Blepharonasofacial malformation syndrome (disorder) Is a False Hereditary disease Inferred relationship Some
Severe congenital hypochromic anemia with ringed sideroblasts (disorder) Is a True Hereditary disease Inferred relationship Some
Monogenic autoinflammatory syndrome (disorder) Is a True Hereditary disease Inferred relationship Some
Marfanoid syndrome De Silva type (disorder) Is a False Hereditary disease Inferred relationship Some
Non-androgenic hypertrichosis co-occurrent and due to genetic disease (disorder) Due to True Hereditary disease Inferred relationship Some 2
Hereditary amyloidosis (disorder) Is a True Hereditary disease Inferred relationship Some
Hereditary vitamin B12 deficiency anemia (disorder) Is a True Hereditary disease Inferred relationship Some
Hereditary folate deficiency anemia (disorder) Is a True Hereditary disease Inferred relationship Some
Family history of heritable malignancy (situation) Associated finding True Hereditary disease Inferred relationship Some 1
Kabuki make-up syndrome Is a False Hereditary disease Inferred relationship Some
Epigenetic disorder Is a False Hereditary disease Inferred relationship Some
Familial benign copper deficiency Is a True Hereditary disease Inferred relationship Some
Craniodigital syndrome and intellectual disability syndrome Is a False Hereditary disease Inferred relationship Some
Hereditary ataxia (disorder) Is a False Hereditary disease Inferred relationship Some
Malan overgrowth syndrome Is a False Hereditary disease Inferred relationship Some
Rare non-syndromic intellectual disability (disorder) Is a False Hereditary disease Inferred relationship Some
Chronic granulomatous disease (disorder) Is a True Hereditary disease Inferred relationship Some
Inherited arthrogryposis Is a False Hereditary disease Inferred relationship Some
Hereditary hypertyrosinemia Is a True Hereditary disease Inferred relationship Some
Hereditary hemochromatosis Is a True Hereditary disease Inferred relationship Some
Hereditary thrombophilia (disorder) Is a True Hereditary disease Inferred relationship Some
Hereditary xanthinuria Is a True Hereditary disease Inferred relationship Some
Inherited disorder of porphyrin metabolism (disorder) Is a True Hereditary disease Inferred relationship Some
Inherited methylmalonic acidaemia AND homocystinuria Is a True Hereditary disease Inferred relationship Some
Hereditary angioedema Is a True Hereditary disease Inferred relationship Some
Sea-blue histiocyte syndrome Is a True Hereditary disease Inferred relationship Some
Hereditary iron deficiency anemia Is a True Hereditary disease Inferred relationship Some

This concept is not in any reference sets

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