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 |
| 3303565011 | Paternal uniparental disomy of chromosome 20 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303566012 | Paternal uniparental disomy of chromosome 20 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303567015 | Paternal UPD20 (uniparental disomy of chromosome 20) | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5401066012 | Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Paternal uniparental disomy of chromosome 20 (disorder) | Is a | Anomaly of chromosome pair 20 | true | Inferred relationship | Some | ||
| Paternal uniparental disomy of chromosome 20 (disorder) | Is a | Autosomal chromosomal disorder (disorder) | false | Inferred relationship | Some | ||
| Paternal uniparental disomy of chromosome 20 (disorder) | Associated morphology | Cellular AND/OR subcellular abnormality | false | Inferred relationship | Some | 1 | |
| Paternal uniparental disomy of chromosome 20 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Paternal uniparental disomy of chromosome 20 (disorder) | Finding site | Chromosome pair 20 | true | Inferred relationship | Some | 1 | |
| Paternal uniparental disomy of chromosome 20 (disorder) | Is a | Uniparental disomy of paternal origin (disorder) | true | Inferred relationship | Some | ||
| Paternal uniparental disomy of chromosome 20 (disorder) | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR