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 |
| 3687521013 | Trisomy 8p syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3687522018 | Trisomy 8p syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3687523011 | Duplication 8p | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3687524017 | A rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8. The disease has a highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (for example mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Trisomy 8p syndrome (disorder) | est un(e) (attribut) | Partial trisomy of short arm of chromosome 8 | true | Inferred relationship | Some | ||
| Trisomy 8p syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Trisomy 8p syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Trisomy 8p syndrome (disorder) | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Trisomy 8p syndrome (disorder) | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Trisomy 8p syndrome (disorder) | localisation d'une constatation (attribut) | Short arm of chromosome (cell structure) | true | Inferred relationship | Some | 1 | |
| Trisomy 8p syndrome (disorder) | localisation d'une constatation (attribut) | Chromosome pair 8 (cell structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR