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 |
| 3723035011 | Maternal uniparental disomy of chromosome 16 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723036012 | Maternal uniparental disomy of chromosome 16 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 770991000241116 | disomie uniparentale maternelle du chromosome 16 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 928271000172111 | disomie uniparentale maternelle du chromosome 16 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3722996018 | A uniparental disomy of maternal origin which may be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described and specific phenotype depends on the inherited disorder. | 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 16 (disorder) | localisation d'une constatation (attribut) | Chromosome pair 16 (cell structure) | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 16 (disorder) | morphologie associée (attribut) | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| Maternal uniparental disomy of chromosome 16 (disorder) | est un(e) (attribut) | Uniparental disomy of maternal origin (disorder) | true | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome 16 (disorder) | est un(e) (attribut) | anomalie du chromosome 16 (trouble) | true | Inferred relationship | Some | ||
| Maternal uniparental disomy of chromosome 16 (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