" /> Niemann-Pick disease type C - CISMeF





Preferred Label : Niemann-Pick disease type C;

ICD-11 definition : Niemann-Pick disease type C (completely distinct from types A and B) is a complex lysosomal lipidosis resulting in hepatosplenomegaly and progressive neurological impairment.;

ICD-11 synonym : cholesterol transporter deficiency;

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Niemann-Pick disease type C (completely distinct from types A and B) is a complex lysosomal lipidosis resulting in hepatosplenomegaly and progressive neurological impairment.

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10/07/2025


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