Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3463894016 | Deletion of part of chromosome 21 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3463895015 | Deletion of part of chromosome 21 | 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 chromosome 21 (disorder) | Is a | Anomaly of chromosome pair 21 | true | Inferred relationship | Some | ||
Deletion of part of chromosome 21 (disorder) | Is a | Deletion of part of autosome | true | Inferred relationship | Some | ||
Deletion of part of chromosome 21 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Deletion of part of chromosome 21 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Deletion of part of chromosome 21 (disorder) | Finding site | Chromosome pair 21 | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
21q partial monosomy syndrome | Is a | True | Deletion of part of chromosome 21 (disorder) | Inferred relationship | Some | |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) | Is a | True | Deletion of part of chromosome 21 (disorder) | Inferred relationship | Some | |
21q22.11q22.12 microdeletion syndrome | Is a | False | Deletion of part of chromosome 21 (disorder) | Inferred relationship | Some | |
Distal deletion of chromosome 21 | Is a | True | Deletion of part of chromosome 21 (disorder) | Inferred relationship | Some | |
Proximal deletion of chromosome 21 (disorder) | Is a | True | Deletion of part of chromosome 21 (disorder) | Inferred relationship | Some |
This concept is not in any reference sets