Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4564290013 | Partial deletion of chromosome 14q | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4564291012 | Partial deletion of long arm of chromosome 14 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 4564292017 | Partial deletion of long arm of chromosome 14 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Partial deletion of long arm of chromosome 14 | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Partial deletion of long arm of chromosome 14 | Is a | Deletion of part of chromosome 14 | true | Inferred relationship | Some | ||
| Partial deletion of long arm of chromosome 14 | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
| Partial deletion of long arm of chromosome 14 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Partial deletion of long arm of chromosome 14 | Associated morphology | Partial monosomy | true | Inferred relationship | Some | 2 | |
| Partial deletion of long arm of chromosome 14 | Finding site | Chromosome pair 14 | true | Inferred relationship | Some | 2 | |
| Partial deletion of long arm of chromosome 14 | Associated morphology | Partial monosomy | 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 | Inferred relationship | Some | |
| 14q11.2 microdeletion syndrome | Is a | True | Partial deletion of long arm of chromosome 14 | Inferred relationship | Some | |
| 14q24.1q24.3 microdeletion syndrome | Is a | True | Partial deletion of long arm of chromosome 14 | Inferred relationship | Some | |
| 14q12 microdeletion syndrome | Is a | True | Partial deletion of long arm of chromosome 14 | Inferred relationship | Some | |
| 14q32 deletion syndrome | Is a | True | Partial deletion of long arm of chromosome 14 | Inferred relationship | Some | |
| Distal monosomy 14q syndrome | Is a | True | Partial deletion of long arm of chromosome 14 | Inferred relationship | Some | |
| Paternal 14q32.2 microdeletion | Is a | True | Partial deletion of long arm of chromosome 14 | Inferred relationship | Some |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR