Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3700742012 | Distal monosomy 19p13.3 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3700744013 | Distal monosomy 19p13.3 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3700743019 | A rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 879431000172111 | monosomie distale 19p13.3 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 978211000172116 | délétion distale 19p | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 979301000172117 | distale deletie 19p | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 996421000172115 | distale monosomie 19p13.3 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal monosomy 19p13.3 (disorder) | Finding site | Short arm of chromosome | false | Inferred relationship | Some | 2 | |
| Distal monosomy 19p13.3 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal monosomy 19p13.3 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Distal monosomy 19p13.3 (disorder) | Is a | Deletion of short arm of chromosome 19 (disorder) | true | Inferred relationship | Some | ||
| Distal monosomy 19p13.3 (disorder) | Finding site | Chromosome pair 19 | true | Inferred relationship | Some | 1 | |
| Distal monosomy 19p13.3 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal monosomy 19p13.3 (disorder) | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 2 | |
| Distal monosomy 19p13.3 (disorder) | Finding site | Chromosome pair 19 | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR