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 |
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 |
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 |
Syndactyly type 5 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Syndactyly type 5 (disorder) | Is a | Syndactyly (disorder) | true | Inferred relationship | Some | ||
Syndactyly type 5 (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 1 | |
Syndactyly type 5 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Syndactyly type 5 (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
Syndactyly type 5 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Syndactyly type 5 (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Syndactyly type 5 (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets