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

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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
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)