Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3332034019 | Distal duplication 6p | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332035018 | Telomeric duplication 6p | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332036017 | Distal trisomy 6p syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332037014 | Distal trisomy 6p syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332038016 | Distal trisomy of the short arm of chromosome 6 has characteristics of pre and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. The duplicated region almost always includes 6pter, with proximal breakpoints ranging from 6p21 to 6p25. Interstitial duplications of 6p have also been reported with different phenotypes depending on their size and location. Most cases of distal trisomy 6p result from missegregation of a familial balanced translocation, or pericentric inversion, and are accompanied by another chromosomal imbalance. Intrachromosomal duplications or de novo translocations are also observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3921301000052115 | distalt trisomi 6p-syndrom | 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 |
| Distal trisomy 6p syndrome (disorder) | Is a | Anomaly of chromosome pair 6 | false | Inferred relationship | Some | ||
| Distal trisomy 6p syndrome (disorder) | Is a | Trisomy and partial trisomy of autosome | false | Inferred relationship | Some | ||
| Distal trisomy 6p syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Distal trisomy 6p syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal trisomy 6p syndrome (disorder) | Finding site | Chromosome pair 6 | true | Inferred relationship | Some | 1 | |
| Distal trisomy 6p syndrome (disorder) | Is a | Partial trisomy of chromosome 6 | false | Inferred relationship | Some | ||
| Distal trisomy 6p syndrome (disorder) | Is a | 6p partial trisomy syndrome | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR