Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 315494017 | Duplication of chromosome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 591135018 | Duplication of chromosome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Duplication of chromosome | Finding site | Chromosome structure | false | Inferred relationship | Some | 1 | |
| Duplication of chromosome | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 1 | |
| Duplication of chromosome | Is a | Chromosomal disorder | true | Inferred relationship | Some | ||
| Duplication of chromosome | Finding site | Chromosome structure | false | Inferred relationship | Some | ||
| Duplication of chromosome | Is a | Congenital chromosomal disease | false | Inferred relationship | Some | ||
| Duplication of chromosome | Finding site | Chromosome structure | true | Inferred relationship | Some | 1 | |
| Duplication of chromosome | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Duplication of chromosome | Associated morphology | Alteration of chromosome structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Xp22.13p22.2 duplication syndrome | Is a | True | Duplication of chromosome | Inferred relationship | Some | |
| Autosomal duplication | Is a | True | Duplication of chromosome | Inferred relationship | Some | |
| 22q11.2 duplication syndrome | Is a | False | Duplication of chromosome | Inferred relationship | Some | |
| Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome | Is a | False | Duplication of chromosome | Inferred relationship | Some | |
| 3q29 microduplication | Is a | False | Duplication of chromosome | Inferred relationship | Some | |
| 8p inverted duplication deletion syndrome | Is a | True | Duplication of chromosome | Inferred relationship | Some | |
| Chromosome Xq27.3q28 duplication syndrome | Is a | False | Duplication of chromosome | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR