Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3662385016 | Paternal uniparental disomy of chromosome 21 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3662386015 | Paternal uniparental disomy of chromosome 21 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3662387012 | Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the father is a carrier. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Paternal uniparental disomy of chromosome 21 | Finding site | Chromosome pair 21 | true | Inferred relationship | Some | 1 | |
| Paternal uniparental disomy of chromosome 21 | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| Paternal uniparental disomy of chromosome 21 | Is a | Uniparental disomy of paternal origin | true | Inferred relationship | Some | ||
| Paternal uniparental disomy of chromosome 21 | Is a | Anomaly of chromosome pair 21 | true | Inferred relationship | Some | ||
| Paternal uniparental disomy of chromosome 21 | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR