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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
Piebaldism (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral resistance to thyroid hormone (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant popliteal pterygium syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
maladie de Charcot-Marie-Tooth autosomique dominante type 2J est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Grayson Wilbrandt dystrophy of cornea (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
White platelet syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Bethlem myopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ablepharon macrostomia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Deficiency of phosphoserine aminotransferase (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
cancer du côlon héréditaire non polyposique est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial Creutzfeldt-Jakob (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Annular epidermolytic ichthyosis (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated cryptophthalmos (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Lattice corneal dystrophy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
ataxie spinocérébelleuse type 15/16 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Lissencephaly due to tubulin alpha 1A mutation (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 26 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 25 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 20 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 23 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 21 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cataract glaucoma syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
WT limb blood syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Upington disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Syndactyly type 4 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndactylie type 5 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Missouri type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dysplasie spondylo-épiphysaire type Maroteaux est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 11 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 12 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 13 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
ataxie spinocérébelleuse type 14 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 17 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
ataxie spinocérébelleuse type 18 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 19 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 27 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 30 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 32 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 34 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
hétéroplasie osseuse progressive est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Primary pigmented nodular adrenocortical disease (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dystrophie cornéenne amorphe postérieure est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pelvis shoulder dysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 35 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 37 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 5 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant late-onset retinal degeneration (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital dyserythropoietic anemia type IV (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cleidorhizomelic syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
maladie de Charcot-Marie-Tooth autosomique dominante type 2L est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant focal dystonia DYT25 type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dystrophie maculaire annulaire concentrique bénigne est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Lynch syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
atrophie bifocale choriorétinienne progressive est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
17q11.2 microduplication syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant muscular dystrophy with limb girdle distribution est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Tubular renal disease with cardiomyopathy syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Triphalangeal thumb and polysyndactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hereditary hemochromatosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Timothy syndrome type 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Timothy syndrome type 2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Alport syndrome autosomal dominant (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pseudohypoparathyroidism type 1C (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some

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