Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3425158015 | Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425159011 | Terminal osseous dysplasia and pigmentary defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425160018 | Syndrome with characteristics of malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. It has been described in 18 females, six of whom came from four different generations of the same family. Phenotypic expression is very heterogeneous. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases. The pigmentary lesions and digital fibromatosis appear a few months after birth. There is evidence that the syndrome is caused by mutation in the FLNA gene. The syndrome is transmitted as an in utero male-lethal X-linked dominant trait, explaining the large number of miscarriages reported in the affected families. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Is a | Skeletal dysplasia | false | Inferred relationship | Some | ||
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Is a | Congenital pigmentary skin anomalies | false | Inferred relationship | Some | ||
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Is a | Inherited cutaneous hyperpigmentation | true | Inferred relationship | Some | ||
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Associated morphology | Hyperpigmentation | false | Inferred relationship | Some | 4 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 5 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Is a | Genetic disorder of skin pigmentation (disorder) | false | Inferred relationship | Some | ||
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 1 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Is a | Otopalatodigital syndrome spectrum disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR