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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
195344010 Autosomal dominant hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2618831016 AD - Autosomal dominant en Synonym Active Entire term case sensitive SNOMED CT core module

1150 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
Inbound Relationships Type Active Source Characteristic Refinability Group
Transthyretin related familial amyloid cardiomyopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial osteochondritis dissecans Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial spontaneous pneumothorax Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ulna metaphyseal dysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ameloonychohypohidrotic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Mesomelic dysplasia of hypoplastic ulna and fibula type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial progressive hyperpigmentation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Multiple epiphyseal dysplasia type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Multiple epiphyseal dysplasia type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Deafness craniofacial syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Proximal myotonic myopathy Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia with natal teeth Turnpenny type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Generalized epilepsy and paroxysmal dyskinesia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary motor and sensory neuropathy Okinawa type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Polydactyly of triphalangeal thumb Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A4 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A6 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 28 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 29 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 31 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial advanced sleep phase syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial isolated arrhythmogenic right ventricular dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, type I Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Epithelial recurrent erosion dystrophy of cornea Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cataract with aberrant oral frenula and growth delay syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Turcot syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Mullerian duct and limb anomalies syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly with deafness and intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Short stature with valvular heart disease and characteristic facies syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant pterygium of conjunctiva Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Shprintzen Goldberg omphalocele syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant spondylocostal dysostosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Steinfeld syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant late onset Parkinson disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Dominant beta-thalassemia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Multiple osteochondroma of long bone Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Roch Leri mesosomatous lipomatosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary keratoacanthoma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary pheochromocytoma and paraganglioma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary diffuse carcinoma of stomach Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Proteus like syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Microcornea with glaucoma and absent frontal sinus syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Deafness with malformation of ear and facial palsy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism due to deficiency of glucokinase Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Punctate palmoplantar keratoderma type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial digital arthropathy and brachydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal dysplasia Braun Tinschert type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Benign adult familial myoclonic epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hypotrichosis simplex of scalp Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant brachyolmia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Syndromic hypoplasia of orbital border Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Koolen De Vries syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Gingival fibromatosis and hypertrichosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Melanoma and neural system tumor syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Distal arthrogryposis type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
3q29 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Bilateral multiple fibroadenoma of breast Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant centronuclear myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary persistence of alpha-fetoprotein Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Behavioral variant of frontotemporal dementia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary cavernous hemangioma of brain Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Enlarged parietal foramina Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary geniospasm Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism and hyperammonemia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Piebaldism Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Peripheral resistance to thyroid hormone Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary breast and ovarian cancer syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant popliteal pterygium syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2B Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2C Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2D Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2E Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2I Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2J Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Grayson Wilbrandt dystrophy of cornea Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
White platelet syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Bethlem myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ablepharon macrostomia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hydrocephalus with cleft palate and joint contracture syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of phosphoserine aminotransferase Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonpolyposis colon cancer Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial Creutzfeldt-Jakob Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Annular epidermolytic ichthyosis Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Mammary digital nail syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Isolated cryptophthalmos Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Lattice corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 15/16 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Lissencephaly due to tubulin alpha 1A mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier

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