Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 132816014 | Aneuploidy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 132819019 | Alteration of chromosome number | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 821174016 | Aneuploidy (morphologic abnormality) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1070231000146112 | aneuploïdie (afwijkende morfologie) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 1070241000146116 | aneuploïdie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Aneuploidy | Is a | Karyotype morphology | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Autosomal aneuploidy (disorder) | Associated morphology | False | Aneuploidy | Inferred relationship | Some | 1 |
| Autosomal aneuploidy (disorder) | Associated morphology | True | Aneuploidy | Inferred relationship | Some | 1 |
| Additional sex chromosome | Associated morphology | True | Aneuploidy | Inferred relationship | Some | 3 |
| Sex chromosome aneuploidy (disorder) | Associated morphology | True | Aneuploidy | Inferred relationship | Some | 1 |
| 49,XYYYY syndrome (disorder) | Associated morphology | True | Aneuploidy | Inferred relationship | Some | 1 |
| 49,XXXYY syndrome | Associated morphology | True | Aneuploidy | Inferred relationship | Some | 2 |
| 49,XXXYY syndrome | Associated morphology | True | Aneuploidy | Inferred relationship | Some | 1 |
| Double Y syndrome | Associated morphology | True | Aneuploidy | Inferred relationship | Some | 1 |
| 48,XYYY syndrome (disorder) | Associated morphology | True | Aneuploidy | Inferred relationship | Some | 1 |
| Tetrasomy | Is a | True | Aneuploidy | Inferred relationship | Some |
Reference Sets
Dutch pathology simple reference set (foundation metadata concept)
FHIR