Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4564290013 | Partial deletion of chromosome 14q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4564291012 | Partial deletion of long arm of chromosome 14 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4564292017 | Partial deletion of long arm of chromosome 14 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Partial deletion of long arm of chromosome 14 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Partial deletion of long arm of chromosome 14 (disorder) | Is a | Deletion of part of chromosome 14 (disorder) | true | Inferred relationship | Some | ||
Partial deletion of long arm of chromosome 14 (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
Partial deletion of long arm of chromosome 14 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Partial deletion of long arm of chromosome 14 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Partial deletion of long arm of chromosome 14 (disorder) | Finding site | Chromosome pair 14 | true | Inferred relationship | Some | 2 | |
Partial deletion of long arm of chromosome 14 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
14q22q23 microdeletion syndrome | Is a | True | Partial deletion of long arm of chromosome 14 (disorder) | Inferred relationship | Some | |
14q11.2 microdeletion syndrome (disorder) | Is a | True | Partial deletion of long arm of chromosome 14 (disorder) | Inferred relationship | Some | |
14q24.1q24.3 microdeletion syndrome | Is a | True | Partial deletion of long arm of chromosome 14 (disorder) | Inferred relationship | Some | |
14q12 microdeletion syndrome (disorder) | Is a | True | Partial deletion of long arm of chromosome 14 (disorder) | Inferred relationship | Some | |
14q32 deletion syndrome | Is a | True | Partial deletion of long arm of chromosome 14 (disorder) | Inferred relationship | Some | |
Distal monosomy 14q syndrome (disorder) | Is a | True | Partial deletion of long arm of chromosome 14 (disorder) | Inferred relationship | Some | |
Paternal 14q32.2 microdeletion (disorder) | Is a | True | Partial deletion of long arm of chromosome 14 (disorder) | Inferred relationship | Some |
This concept is not in any reference sets