32895009: Hereditary disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease

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

Descriptions:

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
syndrome génétique	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
trouble inflammatoire héréditaire	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
affection héréditaire du tissu conjonctif	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	False	Hereditary disease	Inferred relationship	Some
Sequelae of hereditary diseases	After	True	Hereditary disease	Inferred relationship	Some	1
elliptocytose congénitale	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	False	Hereditary disease	Inferred relationship	Some
Hereditary acanthocytosis	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary lymphedema	Is a	False	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	False	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	False	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	False	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	False	Hereditary disease	Inferred relationship	Some
Hereditary hemochromatosis	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary thrombophilia (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary xanthinuria	Is a	False	Hereditary disease	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	Is a	False	Hereditary disease	Inferred relationship	Some
Inherited methylmalonic acidaemia AND homocystinuria	Is a	False	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
Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease	Is a	True	Hereditary disease	Inferred relationship	Some
Thymidine kinase 2 deficiency	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary metabolic disease	Is a	True	Hereditary disease	Inferred relationship	Some
Dystonia due to hereditary disease (disorder)	Due to	True	Hereditary disease	Inferred relationship	Some	3

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
54901018	Hereditary disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
54905010	Inherited disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
764232019	Hereditary disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3891000077111	maladie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
40021000188114	pathologie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module