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familair steroïdresistent nefrotisch syndroom met perceptief gehoorverlies (aandoening)
familair steroïdresistent nefrotisch syndroom met perceptief gehoorverlies
familair niet-steroïdgevoelig nefrotisch syndroom met perceptief gehoorverlies
familair SRNS met perceptief gehoorverlies
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described.
Id783614008
StatusPrimitive
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetN04.8
RuleTRUE
AdviceALWAYS N04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified