Preferred Label : Juvenile nephronophthisis;
ICD-11 definition : Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic
kidney disease with end stage renal failure occurring between birth and late adolescence
depending on the NPHP gene involved. Extra-renal manifestations occur with associated
syndromes. Confirmation is by blood sample, BUN test, 24-hour urine collection, blood
creatinine sample, uric acid test, and urine sample.;
Origin ID : 502211326;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic
kidney disease with end stage renal failure occurring between birth and late adolescence
depending on the NPHP gene involved. Extra-renal manifestations occur with associated
syndromes. Confirmation is by blood sample, BUN test, 24-hour urine collection, blood
creatinine sample, uric acid test, and urine sample.
