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 |
315494017 | Duplication of chromosome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
591135018 | Duplication of chromosome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
10179001000146117 | duplicatie van chromosoom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
10179011000146115 | duplicatie van chromosoom (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
10698311000146115 | chromosoomduplicatie | 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 |
Duplication of chromosome | Is a | Congenital chromosomal disease | false | Inferred relationship | Some | ||
Duplication of chromosome | Occurrence | Congenital | false | Inferred relationship | Some | ||
Duplication of chromosome | Associated morphology | Alteration of chromosome structure | false | Inferred relationship | Some | ||
Duplication of chromosome | Finding site | Chromosome structure | false | Inferred relationship | Some | 1 | |
Duplication of chromosome | Associated morphology | congenitale anomalie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
Duplication of chromosome | Is a | Chromosomal disorder (disorder) | true | Inferred relationship | Some | ||
Duplication of chromosome | Finding site | Chromosome structure | false | Inferred relationship | Some | ||
Duplication of chromosome | Finding site | Chromosome structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Autosomal duplication (disorder) | Is a | True | Duplication of chromosome | Inferred relationship | Some | |
22q11.2 duplication syndrome (disorder) | Is a | False | Duplication of chromosome | Inferred relationship | Some | |
MECP2 duplication syndrome | Is a | False | Duplication of chromosome | Inferred relationship | Some | |
Chromosome 3q29 duplication syndrome (disorder) | Is a | False | Duplication of chromosome | Inferred relationship | Some | |
8p inverted duplication deletion syndrome (disorder) | Is a | True | Duplication of chromosome | Inferred relationship | Some | |
Chromosome Xq27.3q28 duplication syndrome (disorder) | Is a | False | Duplication of chromosome | Inferred relationship | Some | |
Xp22.13p22.2 duplication syndrome | Is a | True | Duplication of chromosome | Inferred relationship | Some |
This concept is not in any reference sets