" /> Cholesteryl ester storage disease - CISMeF





Preferred Label : Cholesteryl ester storage disease;

ICD-11 definition : Cholesteryl ester storage disease is the term used to group together deficiencies in lysosomal acid lipase associated with a less severe clinical phenotype than that seen in Wolman disease (see this term), with a continuous clinical spectrum between early-onset and severe forms and those that are quasi-asymptomatic, which may reflect variations in the levels of residual acid lipase activity in vivo.;

ICD-11 synonym : CESD - [Cholesteryl ester storage disease];

ICD-11 acronym : CESD;

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Cholesteryl ester storage disease is the term used to group together deficiencies in lysosomal acid lipase associated with a less severe clinical phenotype than that seen in Wolman disease (see this term), with a continuous clinical spectrum between early-onset and severe forms and those that are quasi-asymptomatic, which may reflect variations in the levels of residual acid lipase activity in vivo.

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13/05/2024


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