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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Partial trisomy of long arm of chromosome 1 (disorder) | localisation d'une constatation (attribut) | Chromosome pair 1 (cell structure) | true | Inferred relationship | Some | 2 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | localisation d'une constatation (attribut) | Long arm of chromosome (cell structure) | true | Inferred relationship | Some | 1 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Partial trisomy of long arm of chromosome 1 (disorder) | est un(e) (attribut) | Partial trisomy of chromosome 1 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Mosaic 1q duplication | est un(e) (attribut) | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| Proximal duplication of long arm of chromosome 1 | est un(e) (attribut) | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| Distal trisomy 1q (disorder) | est un(e) (attribut) | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| Medial duplication of long arm of chromosome 1 | est un(e) (attribut) | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| Trisomy 1q syndrome (disorder) | est un(e) (attribut) | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some | |
| 1q21.1 microduplication syndrome (disorder) | est un(e) (attribut) | True | Partial trisomy of long arm of chromosome 1 (disorder) | Inferred relationship | Some |
Reference Sets
FHIR