Autosomal dominant hereditary disorder
Autosomal dominant hereditary disorder
Hereditary metabolic disease
Hereditary nephropathy
Hereditary nephropathy
Hyperuricemia
Hyperuricemia
Renal tubular disorder
Renal tubular disorder
Urate nephropathy
Urate nephropathy
|||||||||||
Hyperuricemia, anemia, renal failure syndrome (disorder)
Hyperuricemia, anemia, renal failure syndrome
Familial juvenile hyperuricemic nephropathy type 2
Renin associated familial juvenile hyperuricemic nephropathy
A rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system.
syndroom van hyperurikemie, anemie en nierfalen
syndroom van hyperurikemie, bloedarmoede en nierinsufficiëntie
Id721840000
StatusPrimitive
Finding siteRenal tubule structure
Finding siteRenal tubule structure
Causative agentUrate
Finding siteKidney structure
ICD-10 complex map reference set
TargetE79.0
RuleTRUE
AdviceALWAYS E79.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD61.9
RuleTRUE
AdviceALWAYS D61.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetN19
RuleTRUE
AdviceALWAYS N19
CorrelationSNOMED CT source code to target map code correlation not specified