Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 405160017 | Trisomy and partial trisomy of autosome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 663157011 | Trisomy and partial trisomy of autosome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Trisomy and partial trisomy of autosome | Is a | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | true | Inferred relationship | Some | ||
| Trisomy and partial trisomy of autosome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Trisomy and partial trisomy of autosome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Trisomy and partial trisomy of autosome | Finding site | Chromosome structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Complete trisomy 21 syndrome | Is a | True | Trisomy and partial trisomy of autosome | Inferred relationship | Some |
Reference Sets
FHIR