FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

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
19337016 Dominant hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
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

Start Previous Page 7 of 11 Next End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start