Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5048408012 | PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5048409016 | Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048410014 | Piezo type mechanosensitive ion channel component 1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048411013 | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5048412018 | Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048413011 | PIEZO1-related generalised lymphatic dysplasia with systemic involvement | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5048414017 | PIEZO1-related generalized lymphatic dysplasia with systemic involvement | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5048415016 | Generalized lymphatic dysplasia of Fotiou | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5048416015 | Generalised lymphatic dysplasia of Fotiou | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5048417012 | PIEZO1-related lymphatic-related hydrops fetalis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400000010 | A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400001014 | A rare genetic primary lymphoedema characterised by uniform, widespread lymphoedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | Is a | Primary lymphedema | true | Inferred relationship | Some | ||
| PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | Is a | Genetic disease | true | Inferred relationship | Some | ||
| PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | Finding site | Limb structure | true | Inferred relationship | Some | 1 | |
| PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | Associated morphology | Lymphatic edema | true | Inferred relationship | Some | 1 | |
| PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | Pathological process (attribute) | Pathological developmental process | 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