Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4589390015 | Deletion of part of short arm of chromosome 12 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4589391016 | Deletion of part of short arm of chromosome 12 | 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 |
| Deletion of part of short arm of chromosome 12 (disorder) | Is a | Deletion of part of chromosome 12 (disorder) | true | Inferred relationship | Some | ||
| Deletion of part of short arm of chromosome 12 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Deletion of part of short arm of chromosome 12 (disorder) | Finding site | Chromosome pair 12 | true | Inferred relationship | Some | 1 | |
| Deletion of part of short arm of chromosome 12 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Deletion of part of short arm of chromosome 12 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Deletion of part of short arm of chromosome 12 (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 2 | |
| Deletion of part of short arm of chromosome 12 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Distal monosomy 12p | Is a | True | Deletion of part of short arm of chromosome 12 (disorder) | Inferred relationship | Some | |
| 12p12.1 microdeletion syndrome | Is a | True | Deletion of part of short arm of chromosome 12 (disorder) | Inferred relationship | Some |
Reference Sets
Description inactivation indicator reference set
FHIR