| primaire hyperoxalurie type 3 (aandoening) | | primaire hyperoxalurie type 3 |  | Dit betekent dat je lichaam een bepaalde stof niet goed kan afbreken. Hierdoor hoopt deze stof zich op in je lichaam. Dit kan voor problemen zorgen. | | Primary hyperoxaluria type III | | Primary hyperoxaluria type 3
| | 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 |
| | Id | 734990008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E74.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen van koolhydraten |
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| SNOMED CT to ICD-10 extended map | | Target | E74.8 | | Rule | TRUE | | Advice | ALWAYS E74.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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