Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3315927015 | Stapes ankylosis with broad thumb and toe syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315928013 | Stapes ankylosis with broad thumb and toe syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315929017 | Teunissen Cremers syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6924531000146114 | syndroom van Teunissen-Cremers | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6924541000146118 | stapes-ankylose met brede duimen en tenen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12225261000146116 | stapes-ankylose met brede digiti I en digiti van voet | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12225271000146110 | stapes-ankylose met brede digiti I en digiti van voet (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3315930010 | This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Congenital anomaly of toe | true | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Congenital fusion of ossicles of ear | false | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Congenital malformation of thumb (disorder) | true | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Finding site | Thumb structure | false | Inferred relationship | Some | 5 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 6 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Finding site | Toe structure | false | Inferred relationship | Some | 6 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Associated morphology | congenitale ankylose | false | Inferred relationship | Some | 7 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Finding site | Stapes structure | false | Inferred relationship | Some | 7 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Finding site | Thumb structure | true | Inferred relationship | Some | 2 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Finding site | Stapes structure | true | Inferred relationship | Some | 1 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Finding site | Toe structure | true | Inferred relationship | Some | 3 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Associated morphology | Ankylosis | true | Inferred relationship | Some | 1 | |
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Ear lesion | true | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Congenital anomaly of ossicles of ear | true | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Congenital anomaly of ear with impairment of hearing | true | Inferred relationship | Some | ||
Stapes ankylosis with broad thumb and toe syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets