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 |
| 3316981010 | 16p13.11 microduplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316982015 | 16p13.11 microduplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316983013 | Trisomy 16p13.11 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316987014 | A recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3316988016 | A recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 960391000172112 | syndrome de microduplication 16p13.11 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1002551000172119 | dup(16)(p13.11) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 16p13.11 microduplication syndrome (disorder) | Is a | 16p partial trisomy syndrome | false | Inferred relationship | Some | ||
| 16p13.11 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome (disorder) | Finding site | Chromosome pair 16 | false | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome (disorder) | Is a | Duplication of part of short arm of chromosome 16 (disorder) | true | Inferred relationship | Some | ||
| 16p13.11 microduplication syndrome (disorder) | Is a | Congenital malformation | true | Inferred relationship | Some | ||
| 16p13.11 microduplication syndrome (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 16p13.11 microduplication syndrome (disorder) | Finding site | Chromosome pair 16 | true | Inferred relationship | Some | 2 | |
| 16p13.11 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| 16p13.11 microduplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR