Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3650203017 | Distal trisomy 22q11.2 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3650204011 | Distal 22q11.2 microduplication syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3650205012 | Distal 22q11.2 microduplication syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3650047017 | A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslanting palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities and seizures have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4157621000052110 | 22q11.2-mikroduplikationssyndromet | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal 22q11.2 microduplication syndrome (disorder) | Is a | 22q partial trisomy (disorder) | true | Inferred relationship | Some | ||
| Distal 22q11.2 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Distal 22q11.2 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal 22q11.2 microduplication syndrome (disorder) | Finding site | Chromosome pair 22 | false | Inferred relationship | Some | 1 | |
| Distal 22q11.2 microduplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Distal 22q11.2 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal 22q11.2 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Distal 22q11.2 microduplication syndrome (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
| Distal 22q11.2 microduplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Distal 22q11.2 microduplication syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Distal 22q11.2 microduplication syndrome (disorder) | Finding site | Chromosome pair 22 | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR