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 |
| 3498327017 | Partial trisomy of chromosome 20 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498328010 | Duplication of chromosome 20 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498329019 | Partial trisomy of chromosome 20 | 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 chromosome 20 (disorder) | Is a | Anomaly of chromosome pair 20 | true | Inferred relationship | Some | ||
| Partial trisomy of chromosome 20 (disorder) | Is a | Trisomy and partial trisomy of autosome | true | Inferred relationship | Some | ||
| Partial trisomy of chromosome 20 (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Partial trisomy of chromosome 20 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Partial trisomy of chromosome 20 (disorder) | Finding site | Chromosome pair 20 | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 20q partial trisomy (disorder) | Is a | True | Partial trisomy of chromosome 20 (disorder) | Inferred relationship | Some | |
| Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion. | Is a | True | Partial trisomy of chromosome 20 (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR