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tubulo-interstitiële nefritis bij karyomegalie (aandoening)
tubulo-interstitiële nefritis bij karyomegalie
TIN bij karyomegalie
karyomegalische interstitiële nefritis
Karyomegalic interstitial nephritis
Systemic karyomegaly
KIN - karyomegalic interstitial nephritis
A rare genetic renal disease with characteristics of slowly progressive chronic tubulointerstitial nephritis leading to end-stage renal disease before the age of 50 years. The disease manifests mild proteinuria, glucosuria and occasionally urinary sediment abnormalities. Mild extrarenal manifestations such as recurrent upper respiratory tract infections and abnormal liver function tests may be associated. Renal biopsy reveals severe chronic interstitial fibrosis and tubular changes as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged hyperchromatic nuclei. Caused by homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q.
Id782738008
StatusPrimitive
Clinical coursechronisch
referentieset met complexe 'mapping' naar ICD-10
TargetN11.8
RuleTRUE
AdviceALWAYS N11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified