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 |
3321285013 | Brachydactyly with syndactyly Zhao type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3321286014 | Brachydactyly with syndactyly Zhao type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3321287017 | A recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the second and fifth fingers and absence of middle phalanges of the second to fifth toes) and a syndactyly of the second and third toes. Metacarpals and metatarsals anomalies are common. This syndrome has been described in two families. It is caused by HOXD13 mutations in 2q31-q32. 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 |
Brachydactyly with syndactyly Zhao type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Brachydactyly with syndactyly Zhao type (disorder) | Is a | Synbrachydactyly | false | Inferred relationship | Some | ||
Brachydactyly with syndactyly Zhao type (disorder) | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 2 | |
Brachydactyly with syndactyly Zhao type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Brachydactyly with syndactyly Zhao type (disorder) | Finding site | Entire digit | false | Inferred relationship | Some | 2 | |
Brachydactyly with syndactyly Zhao type (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 3 | |
Brachydactyly with syndactyly Zhao type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Brachydactyly with syndactyly Zhao type (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 3 | |
Brachydactyly with syndactyly Zhao type (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 2 | |
Brachydactyly with syndactyly Zhao type (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 2 | |
Brachydactyly with syndactyly Zhao type (disorder) | Is a | Symbrachydactyly | true | Inferred relationship | Some | ||
Brachydactyly with syndactyly Zhao type (disorder) | Finding site | Entire digit | true | Inferred relationship | Some | 1 | |
Brachydactyly with syndactyly Zhao type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Brachydactyly with syndactyly Zhao type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Brachydactyly with syndactyly Zhao type (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 1 | |
Brachydactyly with syndactyly Zhao type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Brachydactyly with syndactyly Zhao type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Brachydactyly with syndactyly Zhao type (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets