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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary hypotrichosis simplex of scalp Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant brachyolmia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Syndromic orbital border hypoplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Koolen De Vries syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Gingival fibromatosis and hypertrichosis syndrome 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
Digitotalar dysmorphism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
3q29 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Bilateral multiple fibroadenoma of breast Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant centronuclear myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary persistence of alpha-fetoprotein Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Behavioural variant of frontotemporal dementia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cavernous haemangioma of brain Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Enlarged parietal foramina Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary geniospasm Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Piebaldism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral resistance to thyroid hormone Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary breast and ovarian cancer syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant popliteal pterygium syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2B Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2C Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2D Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2E Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2I Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2J Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Grayson Wilbrandt corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
White platelet syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Bethlem myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ablepharon macrostomia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aase Smith type 1 syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Deficiency of phosphoserine aminotransferase Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary nonpolyposis colon cancer Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial Creutzfeldt-Jakob Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Annular epidermolytic ichthyosis Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Mammary digital nail syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated cryptophthalmos Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Lattice corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 15/16 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Syndromic microphthalmia type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia MacDermot type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Cantu type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 26 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 25 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 20 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 23 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 21 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cataract glaucoma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
WT limb blood syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Upington disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Shprintzen-Goldberg syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Syndactyly type 4 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Syndactyly type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brain lung thyroid syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Missouri type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Maroteaux type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 11 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 12 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 13 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 14 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 17 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 18 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 19 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 27 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 30 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 32 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 34 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive osseous heteroplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Primary pigmented nodular adrenocortical disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Posterior amorphous corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pelvis shoulder dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 35 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 37 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant late-onset retinal degeneration Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mesomelic dysplasia Kantaputra type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital dyserythropoietic anaemia type IV Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cleidorhizomelic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2F Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2G Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2K Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2L Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2M Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2N Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant focal dystonia DYT25 type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign concentric annular macular dystrophy 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive bifocal chorioretinal atrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
17q11.2 microduplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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