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 |
| 5402921019 | Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402922014 | Distal trisomy of the short arm of chromosome 6 is characterised by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR