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 |
| 3760087012 | UPD(X)mat - maternal uniparental disomy of chromosome X | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3760088019 | Maternal uniparental disomy of chromosome X (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760089010 | Maternal uniparental disomy of chromosome X | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760090018 | A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Maternal uniparental disomy of chromosome X (disorder) | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome X (disorder) | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome X (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome X (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome X (disorder) | Is a | Uniparental disomy of maternal origin (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR