Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3727470016 | Peripheral dysostosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3727471017 | Peripheral dysostosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6371151000146119 | perifere dysostose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6371161000146116 | perifere dysostose (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3727393011 | A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| perifere dysostose | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| perifere dysostose | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| perifere dysostose | Is a | Dysostosis | false | Inferred relationship | Some | ||
| perifere dysostose | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| perifere dysostose | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| perifere dysostose | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| perifere dysostose | Finding site | Bone structure | false | Inferred relationship | Some | 1 | |
| perifere dysostose | Associated morphology | Dysplasia | false | Inferred relationship | Some | 1 | |
| perifere dysostose | Is a | Developmental hereditary disorder | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR