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
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial osteochondritis dissecans (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial spontaneous pneumothorax (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ameloonychohypohidrotic syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial progressive hyperpigmentation (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple epiphyseal dysplasia type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple epiphyseal dysplasia type 5 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Deafness craniofacial syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Proximal myotonic myopathy (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary motor and sensory neuropathy Okinawa type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Polydactyly of triphalangeal thumb (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brachydactyly type A1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brachydactyly type A4 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brachydactyly type A6 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 28 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 29 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 31 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial advanced sleep phase syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial isolated arrhythmogenic right ventricular dysplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease, type I (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Epithelial recurrent erosion dystrophy of cornea (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Turcot syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mullerian duct and limb anomalies syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Short stature with valvular heart disease and characteristic facies syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant pterygium of conjunctiva (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Shprintzen Goldberg omphalocele syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Steinfeld syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant late onset Parkinson disease (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dominant beta-thalassemia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple osteochondroma of long bone (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Roch Leri mesosomatous lipomatosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary keratoacanthoma (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary pheochromocytoma and paraganglioma (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary diffuse carcinoma of stomach (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Proteus like syndrome (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyperinsulinism due to deficiency of glucokinase (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Punctate palmoplantar keratoderma type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Metaphyseal dysplasia Braun Tinschert type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Benign adult familial myoclonic epilepsy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary hypotrichosis simplex of scalp (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant brachyolmia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Syndromic hypoplasia of orbital border (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Koolen De Vries syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Gingival fibromatosis and hypertrichosis syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Melanoma and neural system tumour syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distal arthrogryposis type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
3q29 microdeletion syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Bilateral multiple fibroadenoma of breast (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant centronuclear myopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary persistence of alpha-fetoprotein (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Behavioral variant of frontotemporal dementia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary cavernous hemangioma of brain (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Enlarged parietal foramina (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary geniospasm (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyperinsulinism and hyperammonemia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Piebaldism (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Peripheral resistance to thyroid hormone (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary breast and ovarian cancer syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant popliteal pterygium syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Grayson Wilbrandt dystrophy of cornea (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
White platelet syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Bethlem myopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ablepharon macrostomia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Deficiency of phosphoserine aminotransferase (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
HNPCC - hereditary nonpolyposis colon cancer	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial Creutzfeldt-Jakob (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Annular epidermolytic ichthyosis (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mammary digital nail syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Isolated cryptophthalmos (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Lattice corneal dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 15/16 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	Is a	True	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)