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
brist på pseudokolinesteras	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial hypodontia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dentin dysplasia, type II	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Acute intermittent porphyria	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cutis laxa, autosomal dominant	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pfeiffer's disease	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pseudo von Willebrand disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary stomatocytosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial amyloid nephropathy with urticaria AND deafness	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Marfan's syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dominant hereditary optic atrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant variant form of albumin	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary gastrogenic lactose intolerance	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
juvenil diabetes mellitus med debut i vuxen ålder	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
adult polycystisk njursjukdom	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary hemochromatosis	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyaline dystrophy of Bruch's membrane	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial amyloid polyneuropathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary oculoleptomeningeal amyloid angiopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary cerebral amyloid angiopathy, Icelandic type	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
kerubism	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary cerebral amyloid angiopathy, Dutch type	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary elliptocytosis due to deficiency of protein 4.1	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary nephrogenic diabetes insipidus	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Franceschetti-Kleins syndrom	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
autosomalt dominant analbuminemi	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant excess of transthyretin	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary pancreatitis	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Gorlin syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary elliptocytosis due to abnormal protein 4.1	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
autosomalt dominant okulokutan albinism	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary angioedema	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
White sponge nevus of mucosa	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pseudohypoaldosteronism, type 1, dominant form	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dominant autosomal hereditary disorder, complete penetrance	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dominant autosomal hereditary disorder, incomplete penetrance	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary elliptocytosis due to alpha spectrin defect	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Vitelliform dystrophy	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Neurofibromatosis type 1	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial hemiplegic migraine	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant deficiency of plasminogen	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant late onset basal ganglia degeneration	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant idiopathic familial dystonia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant sensory neuropathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant retinitis pigmentosa	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - local	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant muscular dystrophy not predominantly limb girdle	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial chronic mucocutaneous candidiasis - dominant type	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant ichthyosis vulgaris	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant lamellar ichthyosis	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant cystoid macular edema	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Acrodysostosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
autosomalt dominant mutilerande keratodermi	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Reis-Bucklers' corneal dystrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
White sponge nevus of mucosa (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple endocrine neoplasia, type 3	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Noonan's syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple congenital exostosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hawkinsinuria (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Currarino triad (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Benign neonatal familial convulsions	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Reticulate acropigmentation of Kitamura	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple lentigines syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cleidocranial dysostosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Neurofibromatosis type 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Thiel-Behnke corneal dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
May Hegglins syndrom	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Roussy-Lévys syndrom	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Schnyder crystalline cornea dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Andersen Tawil syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Episodic ataxia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary angioedema with normal C1 esterase inhibitor activity	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Steatocystoma multiplex	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Li-Fraumeni syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Loeys-Dietz syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Adult onset autosomal dominant leukodystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Heritable pulmonary arterial hypertension due to BMPR2 mutation	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
SOX2 anophthalmia syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Paroxysmal extreme pain disorder (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
WNT4 Mullerian aplasia and ovarian dysfunction	Is a	False	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)