Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757844013 | Mosaic genome-wide paternal uniparental disomy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757845014 | Genome-wide paternal uniparental disomy mosaicism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757846010 | Mosaic genome-wide paternal uniparental disomy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757847018 | A rare chromosomal anomaly with characteristics of a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various neoplasms. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mosaic genome-wide paternal uniparental disomy | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| Mosaic genome-wide paternal uniparental disomy | Is a | Uniparental disomy of paternal origin (disorder) | true | Inferred relationship | Some | ||
| Mosaic genome-wide paternal uniparental disomy | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mosaic genome-wide paternal uniparental disomy | Finding site | Chromosome | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR