Status: current, 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 |
| 3498330012 | Duplication of chromosome 21 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498331011 | Partial trisomy of chromosome 21 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498332016 | Partial trisomy of chromosome 21 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1246031000172119 | trisomie partielle du chromosome 21 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1198921000172113 | partiële trisomie van chromosoom 21 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Partial trisomy of chromosome 21 | Is a | Anomaly of chromosome pair 21 | true | Inferred relationship | Some | ||
| Partial trisomy of chromosome 21 | Is a | Trisomy and partial trisomy of autosome | true | Inferred relationship | Some | ||
| Partial trisomy of chromosome 21 | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Partial trisomy of chromosome 21 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Partial trisomy of chromosome 21 | Finding site | Chromosome pair 21 | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Proximal duplication of chromosome 21 (disorder) | Is a | True | Partial trisomy of chromosome 21 | Inferred relationship | Some | |
| 21q partial trisomy (disorder) | Is a | True | Partial trisomy of chromosome 21 | Inferred relationship | Some | |
| Partial trisomy 21 in Down's syndrome | Is a | True | Partial trisomy of chromosome 21 | Inferred relationship | Some | |
| Distal duplication of chromosome 21 | Is a | True | Partial trisomy of chromosome 21 | Inferred relationship | Some |
Reference Sets
FHIR