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 |
| 5403114011 | Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403115012 | Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR