Congenital nephropathy
Primary hyperoxaluria
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Primary hyperoxaluria type III (disorder)
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
primaire hyperoxalurie type 3
Id734990008
StatusPrimitive
Finding siteKidney structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE74.8
RuleTRUE
AdviceALWAYS E74.8
CorrelationSNOMED CT source code to target map code correlation not specified