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 |
| 3662385016 | Paternal uniparental disomy of chromosome 21 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662386015 | Paternal uniparental disomy of chromosome 21 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 768251000241111 | disomie uniparentale paternelle du chromosome 21 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 933161000172119 | disomie uniparentale paternelle du chromosome 21 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3662387012 | Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the father is a carrier. | 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 21 (disorder) | localisation d'une constatation (attribut) | Chromosome pair 21 (cell structure) | true | Inferred relationship | Some | 1 | |
| Paternal uniparental disomy of chromosome 21 (disorder) | morphologie associée (attribut) | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| Paternal uniparental disomy of chromosome 21 (disorder) | est un(e) (attribut) | Uniparental disomy of paternal origin (disorder) | true | Inferred relationship | Some | ||
| Paternal uniparental disomy of chromosome 21 (disorder) | est un(e) (attribut) | anomalie du chromosome 21 | true | Inferred relationship | Some | ||
| Paternal uniparental disomy of chromosome 21 (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR