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 |
| 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 | Inactive | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402161019 | 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402162014 | 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Is a | partiel trisomi 16p-syndrom | false | Inferred relationship | Some | ||
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Finding site | Chromosome pair 16 | false | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Is a | Duplication of part of short arm of chromosome 16 (disorder) | true | Inferred relationship | Some | ||
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Is a | Congenital malformation | true | Inferred relationship | Some | ||
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Finding site | Chromosome pair 16 | true | Inferred relationship | Some | 2 | |
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR