Status: current, Not 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 |
| 3451928015 | 7q11.23 microduplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451929011 | 7q11.23 microduplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451930018 | A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7. The disorder has a highly variable phenotype that typically manifests with mild to moderate intellectual delay (patients could be in the normal range), speech (particularly expressive language disorders) and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebrows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 7q11.23 microduplication syndrome (disorder) | Is a | 7q partial trisomy (disorder) | true | Inferred relationship | Some | ||
| 7q11.23 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| 7q11.23 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 7q11.23 microduplication syndrome (disorder) | Finding site | Chromosome pair 7 | true | Inferred relationship | Some | 1 | |
| 7q11.23 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 7q11.23 microduplication syndrome (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 2 | |
| 7q11.23 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR