" /> Dorfman-Chanarin disease - CISMeF





Preferred Label : Dorfman-Chanarin disease;

ICD-11 definition : This refers to an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.;

ICD-11 synonym : Neutral lipid storage disease with ichthyosis; NLSDI - [Neutral lipid storage disease with ichthyosis];

ICD-11 acronym : NLSDI;

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This refers to an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.

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07/05/2025


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