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 |
| 3303561019 | Maternal uniparental disomy of chromosome 20 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303562014 | Maternal uniparental disomy of chromosome 20 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303563016 | Maternal UPD20 (uniparental disomy of chromosome 20) | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5401065011 | Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. | 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 20 (disorder) | Is a | Anomaly of chromosome pair 20 | true | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome 20 (disorder) | Is a | Autosomal chromosomal disorder (disorder) | false | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome 20 (disorder) | Associated morphology | Cellular AND/OR subcellular abnormality | false | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 20 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 20 (disorder) | Finding site | Chromosome pair 20 | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 20 (disorder) | Is a | Uniparental disomy of maternal origin (disorder) | true | Inferred relationship | Some | ||
| Maternal 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