Preferred Label : Long chain acyl-CoA dehydrogenase deficiency;
ICD-11 definition : LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism
disorder characterized clinically by corneal opacities, and sometimes renal failure
and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.;
ICD-11 synonym : LCAD - [Long chain acyl-CoA dehydrogenase] deficiency; LCAD deficiency;
Origin ID : 692829041;
UMLS CUI : C0220711;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism
disorder characterized clinically by corneal opacities, and sometimes renal failure
and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.