Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
| 3310743017 | 3q29 microduplication | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3310744011 | Trisomy 3q29 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3310745012 | Chromosome 3q29 duplication syndrome | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 3q29 microduplication | Is a | Anomaly of chromosome pair 3 | false | Inferred relationship | Some | ||
| 3q29 microduplication | Is a | Duplication of chromosome | false | Inferred relationship | Some | ||
| 3q29 microduplication | Is a | Trisomy and partial trisomy of autosome | false | Inferred relationship | Some | ||
| 3q29 microduplication | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| 3q29 microduplication | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 3q29 microduplication | Finding site | Chromosome pair 3 | true | Inferred relationship | Some | 1 | |
| 3q29 microduplication | Is a | Partial trisomy of chromosome 3 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR