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11164009: Autosomal dominant hereditary disorder (disorder)

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
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
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active 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 Only initial character 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
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1208 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudocholinesterase deficiency Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypodontia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentin dysplasia, type II (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acute intermittent porphyria Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, autosomal dominant Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pfeiffer's disease Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pseudo von Willebrand disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid nephropathy with urticaria AND deafness Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Marfan's syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dominant hereditary optic atrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant variant form of albumin Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary gastrogenic lactose intolerance (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Maturity onset diabetes mellitus in young Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
polykystose rénale autosomique dominante Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-1-antitrypsin deficiency (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyaline dystrophy of Bruch's membrane Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid polyneuropathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary oculoleptomeningeal amyloid angiopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral amyloid angiopathy, Icelandic type Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cherubism Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Peutz-Jeghers syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral amyloid angiopathy, Dutch type Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to deficiency of protein 4.1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant epidermolysis bullosa simplex Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
diabète insipide néphrogénique héréditaire Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Franceschetti-Klein syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant analbuminemia Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary pancreatitis Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gorlin syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple polyposis syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to beta spectrin defect in self-association Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to abnormal protein 4.1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Benign autosomal dominant osteopetrosis Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant oculocutaneous albinism Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary angio-oedema Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
White sponge nevus of mucosa Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pseudohypoaldosteronism, type 1, dominant form Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dominant autosomal hereditary disorder, complete penetrance Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dominant autosomal hereditary disorder, incomplete penetrance Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to alpha spectrin defect Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie vitelliforme Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 1 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial hemiplegic migraine Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant deficiency of plasminogen Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant late onset basal ganglia degeneration (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant idiopathic familial dystonia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant sensory neuropathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant retinitis pigmentosa Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta - hypoplastic autosomal dominant - local Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypophosphatemic bone disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant muscular dystrophy not predominantly limb girdle (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial chronic mucocutaneous candidiasis - dominant type Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant ichthyosis vulgaris Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant lamellar ichthyosis (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant cystoid macular edema (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrodysostosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type V (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant mutilating keratoderma Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Reis-Bucklers' corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
White sponge nevus of mucosa (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Freeman-Sheldon syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 2b (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Noonan's syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital exostosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hawkinsinuria (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Currarino triad (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Reticulate acropigmentation of Kitamura (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple lentigines syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleidocranial dysostosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 2 Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Thiel-Behnke corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
May Hegglin syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Roussy-Levy syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Schnyder crystalline cornea dystrophy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Episodic ataxia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary angioneurotic oedema with normal C1 esterase inhibitor activity Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Steatocystoma multiplex Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Li-Fraumeni syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type I Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glucose transporter protein type 1 deficiency syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Loeys-Dietz syndrome (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Adult onset autosomal dominant leukodystrophy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Heritable pulmonary arterial hypertension due to BMPR2 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Paroxysmal extreme pain disorder Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
WNT4 Mullerian aplasia and ovarian dysfunction Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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