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 |
| 3317478018 | 8q12 microduplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317479014 | 8q12 microduplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317480012 | Trisomy 8q12 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317481011 | Syndrome associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy and Duane anomaly. It has been described in two patients. The lack of recurrent breakpoints in these two cases and the absence of any low-copy repeats pairs that flank these de novo events do not support non-allelic homologous recombination as the mutation mechanism. The 8q12 region includes CHD7 and it is proposed that this gene, associated with CHARGE syndrome by haploinsufficiency, causes a different phenotype by gain-of-dosage. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 903321000172116 | syndrome de microduplication 8q12 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 957461000172115 | dup(8)(q12) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 921531000172116 | 8q12 microduplicatiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 955961000172117 | dup(8)(q12) | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 8q12 microduplication syndrome (disorder) | Is a | 8q partial trisomy syndrome | true | Inferred relationship | Some | ||
| 8q12 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| 8q12 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 8q12 microduplication syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR