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primaire hyperoxalurie type 3 (aandoening)
primaire hyperoxalurie type 3
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
Id734990008
StatusPrimitive
Finding sitestructuur van nier
Occurrencecongenitaal
DHD Diagnosethesaurus-referentieset
referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus
TargetE74.8
TermOverige gespecificeerde stofwisselingsstoornissen van koolhydraten
referentieset met complexe 'mapping' naar ICD-10
TargetE74.8
RuleTRUE
AdviceALWAYS E74.8
CorrelationSNOMED CT source code to target map code correlation not specified