32895009: Hereditary disease (disorder)

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

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

Descriptions:

Id Description Lang Type Status Case? Module

54901018 Hereditary disease en Synonym Active Entire term case insensitive SNOMED CT core module

54905010 Inherited disease en Synonym Active Entire term case insensitive SNOMED CT core module

764232019 Hereditary disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary disease in family possibly affecting fetus	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Genetic syndrome	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Autosomal hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary retinal dystrophy	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary choroidal dystrophy	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Polygenic hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Sex-linked hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Connective tissue hereditary disorder	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Developmental hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary disorder by system	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Inflammatory hereditary disorder	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Mendelian disorders	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Metabolic hereditary disorder	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Inherited disorder of connective tissue	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Sequelae of hereditary diseases	Temporally follows	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Genetic counseling	Has focus	True	Hereditary disease	Inferred relationship	Existential restriction modifier	2
Inborn error of metabolism	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Sequelae of hereditary diseases	After	True	Hereditary disease	Inferred relationship	Existential restriction modifier	1
Congenital elliptocytosis	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Familial erythrocytosis	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Thalassemia	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Citrullinemia	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary acanthocytosis	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary lymphedema	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Family history of hereditary disease	Associated finding	False	Hereditary disease	Inferred relationship	Existential restriction modifier	1
Inherited platelet disorder	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary hypoplasminogenemia	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary dysplasminogenemia	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary motor end-plate disease	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary coagulation factor deficiency	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Familial hemorrhagic diathesis	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Family history of hereditary disease	Associated finding	True	Hereditary disease	Inferred relationship	Existential restriction modifier	1
Hereditary pancreatitis	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Familial Mediterranean fever	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Family history of hereditary disease	Associated finding	False	Hereditary disease	Inferred relationship	Existential restriction modifier	1
Fetus with hereditary disease	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Inherited aminoaciduria	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary cancer-predisposing syndrome	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Suspected hereditary disease	Associated finding	True	Hereditary disease	Inferred relationship	Existential restriction modifier	1
Genetic counseling for heritable disorder with patient at risk	Has focus	True	Hereditary disease	Inferred relationship	Existential restriction modifier	1
Genetic counseling for heritable disorder with fetus at risk	Has focus	True	Hereditary disease	Inferred relationship	Existential restriction modifier	2
Congenital vascular malformation due to inherited syndrome	Due to	True	Hereditary disease	Inferred relationship	Existential restriction modifier	2
Congenital dyserythropoietic anemia	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Gingival disease due to genetic disorder	Due to	True	Hereditary disease	Inferred relationship	Existential restriction modifier	1
Connective tissue hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Syndactyly of fingers type 8	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Growth delay due to insulin-like growth factor I resistance	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Postaxial polydactyly type A	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Postaxial polydactyly type B	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Obesity due to melanocortin 4 receptor deficiency	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Familial thyroglossal duct cyst	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Inherited predisposition to essential thrombocythemia	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Atypical Rett syndrome	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Tetraamelia with multiple malformation syndrome	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Dianzani autoimmune lymphoproliferative disease	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Blepharonasofacial malformation syndrome	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Severe congenital hypochromic anemia with ringed sideroblasts	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Monogenic autoinflammatory syndrome	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Marfanoid syndrome De Silva type	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Non-androgenic hypertrichosis co-occurrent and due to genetic disease	Due to	True	Hereditary disease	Inferred relationship	Existential restriction modifier	2
Hereditary amyloidosis	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary vitamin B12 deficiency anemia	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary folate deficiency anemia	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Family history of heritable malignancy	Associated finding	True	Hereditary disease	Inferred relationship	Existential restriction modifier	1
Kabuki make-up syndrome	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Epigenetic disorder	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Familial benign copper deficiency	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Craniodigital syndrome and intellectual disability syndrome	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary ataxia	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Malan overgrowth syndrome	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Rare non-syndromic intellectual disability	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Chronic granulomatous disease	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Inherited arthrogryposis	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary hypertyrosinemia	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary hemochromatosis	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary thrombophilia	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary xanthinuria	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Inherited disorder of porphyrin metabolism	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Inherited methylmalonic acidemia AND homocystinuria	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary angioedema	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Sea-blue histiocyte syndrome	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary iron deficiency anemia	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Maternally inherited mitochondrial deoxyribonucleic acid disease	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Mendelian susceptibility to mycobacterial disease	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Thymidine kinase 2 deficiency	Is a	False	Hereditary disease	Inferred relationship	Existential restriction modifier
Hereditary metabolic disease	Is a	True	Hereditary disease	Inferred relationship	Existential restriction modifier
Dystonia due to hereditary disease	Due to	True	Hereditary disease	Inferred relationship	Existential restriction modifier	3
Suspected hereditary disease	Associated finding	False	Hereditary disease	Inferred relationship	Existential restriction modifier	1
Suspected glutaric aciduria type 1	Associated finding	True	Hereditary disease	Inferred relationship	Existential restriction modifier	2
Suspected homocystinuria	Associated finding	True	Hereditary disease	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
54901018	Hereditary disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
54905010	Inherited disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
764232019	Hereditary disease (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module