Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5084162011 | 14q32 duplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5084163018 | 14q32 duplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5084164012 | Trisomy 14q32 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5084165013 | Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13988061000146117 | predispositie voor myeloproliferatief neoplasma beginnend op volwassen leeftijd door 14q32-duplicatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988071000146111 | 14q32-duplicatiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988081000146113 | 14q32-duplicatiesyndroom (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988091000146110 | trisomie 14q32 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5084166014 | A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukaemia, chronic myelomonocytic leukaemia and myeloproliferative neoplasms especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukaemia can be observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5084167017 | A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia and myeloproliferative neoplasms especially essential thrombocythaemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 14q32 duplication syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| 14q32 duplication syndrome | Is a | 14q partial trisomy (disorder) | true | Inferred relationship | Some | ||
| 14q32 duplication syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 14q32 duplication syndrome | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
| 14q32 duplication syndrome | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| 14q32 duplication syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 14q32 duplication syndrome | Finding site | Chromosome pair 14 | true | Inferred relationship | Some | 2 | |
| 14q32 duplication syndrome | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR