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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
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
MYH9 related disease est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant keratitis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Nicolaides-Baraitser syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome classic type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial partial lipodystrophy type 2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial avascular necrosis of head of femur (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
hyperinsulinisme induit par l'effort est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary papillary renal cell carcinoma (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Syndactyly type 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndactylie type 2 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Syndactyly type 3 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 7 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 6 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 8 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 10 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant dopa responsive dystonia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
malformation glomuveineuse est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
neuropathie thermosensible héréditaire est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Gnathodiaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial osteochondritis dissecans (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial spontaneous pneumothorax (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ulna metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome améloonychohypohidrotique est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial progressive hyperpigmentation (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dysplasie épiphysaire multiple type 1 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia type 5 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Deafness craniofacial syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Proximal myotonic myopathy (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ectodermal dysplasia with natal teeth Turnpenny type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary motor and sensory neuropathy Okinawa type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly of triphalangeal thumb (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A4 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A6 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 28 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
ataxie spinocérébelleuse type 29 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 31 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial advanced sleep phase syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial isolated arrhythmogenic right ventricular dysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, type I (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Epithelial recurrent erosion dystrophy of cornea (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Turcot syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mullerian duct and limb anomalies syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant pterygium of conjunctiva (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spondylocostal dysostosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Steinfeld syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant late onset Parkinson disease (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant beta-thalassemia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple osteochondroma of long bone (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Roch Leri mesosomatous lipomatosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary keratoacanthoma (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary pheochromocytoma and paraganglioma (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary diffuse carcinoma of stomach (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Proteus like syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Deafness with malformation of ear and facial palsy syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Punctate palmoplantar keratoderma type 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial digital arthropathy and brachydactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Benign adult familial myoclonic epilepsy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary hypotrichosis simplex of scalp (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
brachyolmie autosomique dominante est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Koolen De Vries syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Gingival fibromatosis and hypertrichosis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Melanoma and neural system tumour syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distal arthrogryposis type 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
3q29 microdeletion syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Bilateral multiple fibroadenoma of breast (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant centronuclear myopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary persistence of alpha-fetoprotein (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Behavioral variant of frontotemporal dementia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cavernous hemangioma of brain (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Enlarged parietal foramina (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary geniospasm (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism and hyperammonemia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Piebaldism (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some

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