Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3687528019 | Partial duplication of long arm of chromosome 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3687529010 | Partial trisomy of long arm of chromosome 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3687530017 | Partial trisomy of long arm of chromosome 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4162751000052116 | partiell trisomi på den långa armen av kromosom 1 | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Partial trisomy of long arm of chromosome 1 (disorder) | Finding site | Chromosome pair 1 | true | Inferred relationship | Some | 2 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | Is a | Partial trisomy of chromosome 1 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Trisomy 1q syndrome (disorder) | Is a | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| 1q21.1 microduplication syndrome (disorder) | Is a | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| Mosaic 1q duplication | Is a | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| Proximal duplication of long arm of chromosome 1 | Is a | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| Distal trisomy 1q (disorder) | Is a | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| Medial duplication of long arm of chromosome 1 | Is a | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR