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 |
| 3656004010 | Non-distal duplication 9q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3656005011 | Non-telomeric trisomy 9q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3656006012 | Non-distal trisomy 9q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3656007015 | Non-distal trisomy 9q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3656008013 | A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 9. The disease has a highly variable phenotype principally characterised by developmental delay, short stature, intellectual disability and craniofacial dysmorphism (microcephaly, broad forehead, low set ears, epicanthus, prominent nose and retrognathia). Cardiac, ocular, thyroid and oesophagus defects along with central nervous system and behavioural/psychiatric abnormalities have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3656009017 | A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 9. The disease has a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability and craniofacial dysmorphism (microcephaly, broad forehead, low set ears, epicanthus, prominent nose and retrognathia). Cardiac, ocular, thyroid and esophagus defects along with central nervous system and behavioral/psychiatric abnormalities 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 |
| Non-distal trisomy 9q | Is a | 9q partial trisomy syndrome (disorder) | true | Inferred relationship | Some | ||
| Non-distal trisomy 9q | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Non-distal trisomy 9q | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Non-distal trisomy 9q | Finding site | Chromosome pair 9 | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR