" /> Nephronophthisis - CISMeF





ICD-11 code : GB83;

Preferred Label : 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 multisystem genetic disorders (e.g.Senior-Loken, Cogan, Joubert);

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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 multisystem genetic disorders (e.g.Senior-Loken, Cogan, Joubert)

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12/05/2025


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