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 |
| 3662505017 | Tetrasomy 5p | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662506016 | Isochromosome 5p | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4565104014 | Tetrasomy 5p syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4565107019 | Tetrasomy 5p syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662508015 | A rare chromosomal anomaly syndrome with variable phenotype and principle characteristics of developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (for example clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (including macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4187401000052112 | tetrasomi 5p | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Tetrasomy 5p syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Tetrasomy 5p syndrome (disorder) | Finding site | Chromosome pair 5 | true | Inferred relationship | Some | 1 | |
| Tetrasomy 5p syndrome (disorder) | Is a | Anomaly of chromosome pair 5 | true | Inferred relationship | Some | ||
| Tetrasomy 5p syndrome (disorder) | Associated morphology | Tetrasomy | true | Inferred relationship | Some | 1 | |
| Tetrasomy 5p syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Tetrasomy 5p syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR