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 |
1002971000172116 | syndactylie type 5 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3315203014 | Syndactyly type 5 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315204015 | Syndactyly type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
753621000241115 | syndactylie type 5 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
876191000172113 | syndactylie postaxiale avec synostose métacarpienne | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3315206018 | A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
syndactylie type 5 | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
syndactylie type 5 | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
syndactylie type 5 | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
syndactylie type 5 | est un(e) (attribut) | Syndactyly (disorder) | true | Inferred relationship | Some | ||
syndactylie type 5 | morphologie associée (attribut) | Congenital abnormal fusion | true | Inferred relationship | Some | 1 | |
syndactylie type 5 | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
syndactylie type 5 | localisation d'une constatation (attribut) | Digit structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets