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 |
| 3662388019 | Paternal uniparental disomy of chromosome 7 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662389010 | Paternal uniparental disomy of chromosome 7 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662390018 | Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (for example cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662391019 | Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (for example cystic fibrosis, congenital chloride diarrhoea, sensorineural hearing loss). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 946651000172115 | disomie uniparentale paternelle du chromosome 7 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 944461000172110 | paternale uniparentale disomie van chromosoom 7 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 978131000172116 | UPD(7)pat - paternale uniparentale disomie van chromosoom 7 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Paternal uniparental disomy of chromosome 7 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Paternal uniparental disomy of chromosome 7 | Is a | Uniparental disomy of paternal origin (disorder) | true | Inferred relationship | Some | ||
| Paternal uniparental disomy of chromosome 7 | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Some | 1 | |
| Paternal uniparental disomy of chromosome 7 | Is a | Anomaly of chromosome pair 7 | true | Inferred relationship | Some | ||
| Paternal uniparental disomy of chromosome 7 | Finding site | Chromosome pair 7 | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR