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 |
| 7993321000146114 | syndroom van trisomie 8p | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7993351000146117 | trisomie 8p | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7993361000146119 | syndroom van trisomie 8p (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7993391000146112 | syndroom van trisomie van korte arm van chromosoom 8 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Partial trisomy of short arm of chromosome 8 | true | Inferred relationship | Some | ||
| Trisomy 8p syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Trisomy 8p syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Trisomy 8p syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Trisomy 8p syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Trisomy 8p syndrome (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| Trisomy 8p syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR