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:

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)
2503081000052119	ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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
genetiskt syndrom	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
ärftlig inflammatorisk sjukdom	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
ärftlig bindvävssjukdom	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
kongenital elliptocytos	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
ärftlig predisposition för essentiell trombocytemi	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	True	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 hypogammaglobulinemia (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some

This concept is not in any reference sets

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