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 |
| 3322777015 | Angel-shaped phalangoepiphyseal dysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322778013 | Angel-shaped phalangoepiphyseal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322779017 | Angel-shaped phalango-epiphyseal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322780019 | ASPED - angel-shaped phalango-epiphyseal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322783017 | A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3904401000052119 | ängelformad falangoepifyseal dysplasi | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Is a | Congenital anomaly of limb | true | Inferred relationship | Some | ||
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 1 | |
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Angel-shaped phalangoepiphyseal dysplasia (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Angel-shaped phalangoepiphyseal dysplasia (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
FHIR