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 |
| 3701287015 | Maternal uniparental disomy of chromosome 13 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701288013 | Maternal uniparental disomy of chromosome 13 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701289017 | A uniparental disomy of chromosome 13 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother is a carrier. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 908331000172111 | disomie uniparentale maternelle du chromosome 13 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 888601000172119 | UPD(13)mat - maternale uniparentale disomie chromosoom 13 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 975971000172112 | maternale uniparentale disomie chromosoom 13 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Maternal uniparental disomy of chromosome 13 | Finding site | Chromosome pair 13 | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 13 | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 13 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 13 | Is a | Anomaly of chromosome pair 13 | true | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome 13 | 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