Status: current, Primitive. Date: 31-Jan 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3512288016 | Primary hyperoxaluria type III (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3512289012 | Primary hyperoxaluria type 3 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3512290015 | Primary hyperoxaluria type III | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3512292011 | A disorder of glyoxylate metabolism that can be asymptomatic or have manifestation of oxalate nephrolithiasis. This disease has a less severe course that primary hyperoxaluria type 1 or type 2, and may be silent or limited to stone formation, sometimes even improving over time. While hyperoxaluria persists in primary hyperoxaluria type 3, nephrocalcinosis and chronic kidney failure are uncommon and systemic involvement has not been reported so far. Caused by mutations in the 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1) gene located to 10q24.1. Transmission is autosomal recessive | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Primary hyperoxaluria type III | Is a | Primary hyperoxaluria | true | Inferred relationship | Some | ||
Primary hyperoxaluria type III | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Primary hyperoxaluria type III | Finding site | Kidney structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set