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familiaire primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose zonder ernstige oculaire betrokkenheid (aandoening)
familiaire primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose zonder ernstige oculaire betrokkenheid
renale hypomagnesiëmie type 3
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Renal hypomagnesemia type 3
A form of familial primary hypomagnesemia characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium wasting, hypercalciuria and kidney failure. This disease is characterized by impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop due to mutations in CLDN16 (3q27), which encodes claudin-16 (previously known as paracellin 1). A significant residual function is observed in several missense mutations, whereas a complete loss of claudin-16 function appears to be more severe with disease presenting earlier and often progressing to kidney failure at a significantly younger age. Transmission is autosomal recessive.
Id725033008
StatusPrimitive
Associated morphologypathologische calcificatie
Finding sitestructuur van nier
referentieset met complexe 'mapping' naar ICD-10
TargetE83.4
RuleTRUE
AdviceALWAYS E83.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE83.5
RuleTRUE
AdviceALWAYS E83.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetN29.8
RuleTRUE
AdviceALWAYS N29.8 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
CorrelationSNOMED CT source code to target map code correlation not specified