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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
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Reardon type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 26 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 25 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 20 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 23 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 21 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cataract glaucoma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
WT limb blood syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hip dysplasia with enchondromata and ecchondroma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Shprintzen Goldberg craniosynostosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 4 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Missouri type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Kimberley type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Maroteaux type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 11 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 12 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 13 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 14 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 17 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 18 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 19 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 27 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 30 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 32 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 34 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Progressive osseous heteroplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Primary pigmented nodular adrenocortical disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Posterior amorphous corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pelvis shoulder dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 35 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 37 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Schmidt type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Stapes ankylosis with broad thumb and toe syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant late-onset retinal degeneration Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Mesomelic dysplasia Kantaputra type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital dyserythropoietic anemia type IV Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cleidorhizomelic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2F Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2G Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2K Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2L Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2M Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2N Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant focal dystonia DYT25 type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant palmoplantar keratoderma and congenital alopecia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Benign concentric annular macular dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Lynch syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Progressive bifocal chorioretinal atrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
17q11.2 microduplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Absence of fingerprints with congenital milia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Multiple epiphyseal dysplasia Beighton type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant muscular dystrophy with limb girdle distribution Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Tubular renal disease with cardiomyopathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ulna fibula ray defect and brachydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Trigonocephaly with broad thumb syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Triphalangeal thumb and polysyndactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Triphalangeal thumb with brachyectrodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hereditary hemochromatosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Timothy syndrome type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Alport syndrome autosomal dominant Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pseudohypoparathyroidism type 1C Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Acropectoral syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Acrorenoocular syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Acromegaloid facial appearance syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Acropectorovertebral dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Doughnut lesion of calvaria and bone fragility syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cardiac anomaly and heterotaxy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cardiospondylocarpofacial syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Acro-dermato-ungual-lacrimal-tooth syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Aniridia and absent patella syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Aniridia and intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ankylosing vertebral hyperostosis with tylosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Aphalangy and syndactyly with microcephaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant macrothrombocytopenia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly and arterial hypertension syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A5 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly with syndactyly Zhao type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cooks syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Coxopodopatellar syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial conodysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis Boston type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis Philadelphia type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Czech dysplasia metatarsal type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cerebroretinal vasculopathy Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier

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