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 |
5402070018 | Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402071019 | Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterised by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315927015 | Stapes ankylosis with broad thumb and toe syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
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 | Only initial character 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 |
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 |
5402070018 | Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402071019 | Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterised by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3422731001000114 | Stapesankylose mit breiten Daumen und Zehen | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3422731001000114 | Stapesankylose mit breiten Daumen und Zehen | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)