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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
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
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (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

1135 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant familial isolated hypoparathyroidism (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Keppen Lubinsky syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial chilblain lupus erythematosus (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pierpont syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary malignant neuroendocrine neoplasm of small intestine (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant mitochondrial myopathy with exercise intolerance est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
KRT1-related diffuse nonepidermolytic keratoderma est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Interstitial lung disease due to surfactant protein C deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multiple discoid fibroma est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Stanescu type est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
8q24.3 microdeletion syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Duane retraction syndrome with congenital deafness est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
FTH1-related iron overload est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial chondromalacia of patella (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Primary failure of tooth eruption (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated osteopoikilosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Benign familial neonatal-infantile seizures (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Osteofibrous dysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
14q32 duplication syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pseudo von Willebrand disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant late onset basal ganglia degeneration est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant idiopathic familial dystonia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant sensory neuropathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant retinitis pigmentosa est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - local est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant muscular dystrophy not predominantly limb girdle est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial chronic mucocutaneous candidiasis - dominant type est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant ichthyosis vulgaris est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant lamellar ichthyosis est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant cystoid macular edema est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Acrodysostosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
acro-céphalo-syndactylie de type V est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary stomatocytosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant mutilating keratoderma est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
néphropathie amyloïde familiale avec urticaire et surdité est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Marfan's syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant hereditary optic atrophy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant variant form of albumin est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary gastrogenic lactose intolerance est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Butyrylcholinesterase deficiency est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Maturity onset diabetes mellitus in young est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Reis-Bucklers' corneal dystrophy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Polycystic kidney disease, adult type est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Melnick-Fraser syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Alpha-1-antitrypsin deficiency (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
White sponge nevus of mucosa (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
hémochromatose héréditaire (trouble) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hyaline dystrophy of Bruch's membrane est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
neuropathie amyloïde familiale est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Icelandic type est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cherubism (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
lentiginose périorificielle avec polypose viscérale est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Dutch type (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
myotonie congénitale, forme autosomique dominante est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary elliptocytosis due to deficiency of protein 4.1 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary nephrogenic diabetes insipidus est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Franceschetti-Klein syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant analbuminemia est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Multiple endocrine neoplasia, type 3 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Noonan's syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant excess of transthyretin est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple congenital exostosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary pancreatitis est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Gorlin syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multiple polyposis syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary elliptocytosis due to beta spectrin defect in self-association est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hawkinsinuria (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Currarino triad (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
épilepsie néonatale familiale bénigne est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary elliptocytosis due to abnormal protein 4.1 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Benign autosomal dominant osteopetrosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Reticulate acropigmentation of Kitamura est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple lentigines syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant oculocutaneous albinism est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Cleidocranial dysostosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Neurofibromatosis type 2 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dystrophie cornéenne de Thiel-Behnke est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary angioedema est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
May Hegglin syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Roussy-Levy syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some

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