Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723035011 | Maternal uniparental disomy of chromosome 16 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3723036012 | Maternal uniparental disomy of chromosome 16 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3722996018 | A uniparental disomy of maternal origin which may be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described and specific phenotype depends on the inherited disorder. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Maternal uniparental disomy of chromosome 16 | Finding site | Chromosome pair 16 | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 16 | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 16 | Is a | Uniparental disomy of maternal origin | true | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome 16 | Is a | Anomaly of chromosome pair 16 | true | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome 16 | 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