Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723036012 | Maternal uniparental disomy of chromosome 16 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 928271000172111 | disomie uniparentale maternelle du chromosome 16 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Maternal uniparental disomy of chromosome 16 (disorder) | Finding site | Chromosome pair 16 | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 16 (disorder) | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 16 (disorder) | Is a | Uniparental disomy of maternal origin (disorder) | true | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome 16 (disorder) | Is a | Anomaly of chromosome pair 16 | true | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome 16 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR