Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3310742010 | Chromosome 3q29 duplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3310743017 | 3q29 microduplication | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3310744011 | Trisomy 3q29 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3310745012 | Chromosome 3q29 duplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3310746013 | A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3871271000052114 | 3q29-mikroduplikation | 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 |
| Chromosome 3q29 duplication syndrome (disorder) | Is a | Anomaly of chromosome pair 3 | false | Inferred relationship | Some | ||
| Chromosome 3q29 duplication syndrome (disorder) | Is a | Duplication of chromosome | false | Inferred relationship | Some | ||
| Chromosome 3q29 duplication syndrome (disorder) | Is a | Trisomy and partial trisomy of autosome | false | Inferred relationship | Some | ||
| Chromosome 3q29 duplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Chromosome 3q29 duplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Chromosome 3q29 duplication syndrome (disorder) | Finding site | Chromosome pair 3 | true | Inferred relationship | Some | 1 | |
| Chromosome 3q29 duplication syndrome (disorder) | Is a | Partial trisomy of chromosome 3 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR