Nephronophthisis (Q46420): Difference between revisions

From determinar.ia.br - Determine suas informações
Changed an Item
Changed an Item
 
Property / Linked ICD 10
 
Property / Linked ICD 10: ICD I820 / rank
 
Normal rank

Latest revision as of 14:59, 13 August 2026

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)
Language Label Description Also known as
default for all languages
GB83
    English
    Nephronophthisis
    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)

      Statements

      CID11:GB83
      0 references
      dki-india-GB83
      0 references
      Concluído
      0 references
      13 August 2026
      0 references
      0 references