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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 Reference Sets
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

1000 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 Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudocholinesterase deficiency 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
Maturity onset diabetes mellitus in young Is a False Autosomal dominant hereditary disorder Inferred relationship Some
polykystose rénale autosomique dominante 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
Cherubism 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-Klein syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant analbuminemia 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
Autosomal dominant oculocutaneous 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
Autosomal dominant mutilating keratoderma Is a True 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 Hegglin syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Roussy-Levy syndrome 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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