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 |
| 3657159018 | Trisomy 8p23.1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657160011 | 8p23.1 duplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657161010 | 8p23.1 duplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657162015 | A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 8 with a highly variable phenotype. Principle characteristics are mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (atrioventricular septal defect). Other reported features include macrocephaly, attention deficit disorder, seizures, hypotonia and ocular and digital anomalies (poly or syndactyly). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 8p23.1 duplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 8p23.1 duplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| 8p23.1 duplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| 8p23.1 duplication syndrome (disorder) | Is a | Partial trisomy of short arm of chromosome 8 | true | Inferred relationship | Some | ||
| 8p23.1 duplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 8p23.1 duplication syndrome (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| 8p23.1 duplication syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR