11164009: Autosomal dominant hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder

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
Autosomal dominant hereditary disorder	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
KLHL9-related early-onset distal myopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital hereditary endothelial dystrophy type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Handigodu type	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ankyrin-B syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial focal epilepsy with variable foci	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Branchiootic syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant slowed nerve conduction velocity	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Laing early-onset distal myopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital myopathy with internal nuclei and atypical cores (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
King Denborough syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Striate palmoplantar keratoderma (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Focal palmoplantar and gingival keratoderma	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial thoracic aortic aneurysm and aortic dissection	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Muscle filaminopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
BAP1 tumor predisposition syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spheroid body myopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Punctate palmoplantar keratoderma type 2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial multiple benign meningioma (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant polycystic kidney disease (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Metabolic myopathy due to lactate transporter defect	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with multiple dislocations	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Generalized basaloid follicular hamartoma syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Radio-renal syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multicentric carpotarsal osteolysis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Moebius syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary benign acanthosis nigricans	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial generalised lentiginosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Centrofacial lentiginosis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ataxia pancytopenia syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary hollow viscus myopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Late-onset distal myopathy Markesbery Griggs type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial bicuspid aortic valve (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Desmin-related myofibrillar myopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Retinal macular dystrophy type 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brachydactyly type B2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distal hereditary motor neuropathy type 1 (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Choanal atresia with radial ray hypoplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Benign familial mesial temporal lobe epilepsy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Occult macular dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary inclusion body myopathy type 4 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Adult-onset distal myopathy due to valosin containing protein mutation (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
2p13.2 microdeletion syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distal myopathy Welander type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
11p15.4 microduplication syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial omphalocele syndrome with facial dysmorphism (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypertrichosis cubiti (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Tetramelic monodactyly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distal hereditary motor neuropathy type 7	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary motor and sensory neuropathy type 5 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dentin dysplasia with sclerotic bone syndrome	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant severe congenital neutropaenia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary site-specific ovarian cancer syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Edinburgh malformation syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital muscular dystrophy due to lamin A/C mutation (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Parietal foramina with clavicular hypoplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyperzincemia and hypercalprotectinemia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ptosis and vocal cord paralysis syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary progressive mucinous histiocytosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant multiple pterygium syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Optic nerve edema, splenomegaly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autism spectrum disorder due to AUTS2 deficiency	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Thrombocythemia with distal limb defect (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Gastric adenocarcinoma and proximal polyposis of stomach (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Drash syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
XTE syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
East Texas bleeding disorder (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Q	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
LMNA-related cardiocutaneous progeria syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Oligodontia and cancer predisposition syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Non-hypoproteinemic hypertrophic gastropathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
19337016	Dominant hereditary disorder, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
195344010	Autosomal dominant hereditary disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632967019	Autosomal dominant hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2618831016	AD - Autosomal dominant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2598921000052112	autosomalt dominant ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)