Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2008. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2690083019 | Autosomal duplication (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2693522016 | Autosomal duplication | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 10178981000146119 | autosomale duplicatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10178991000146117 | autosomale duplicatie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal duplication (disorder) | Is a | Autosomal chromosomal disorder (disorder) | true | Inferred relationship | Some | ||
| Autosomal duplication (disorder) | Is a | Duplication of chromosome | true | Inferred relationship | Some | ||
| Autosomal duplication (disorder) | Finding site | Chromosome structure | false | Inferred relationship | Some | ||
| Autosomal duplication (disorder) | Finding site | Chromosome structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Distal trisomy 1p | Is a | False | Autosomal duplication (disorder) | Inferred relationship | Some | |
| Distal duplication of chromosome 21 | Is a | False | Autosomal duplication (disorder) | Inferred relationship | Some | |
| Distal trisomy 1q (disorder) | Is a | False | Autosomal duplication (disorder) | Inferred relationship | Some | |
| Trisomy and partial trisomy of autosome | Is a | True | Autosomal duplication (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR