Preferred Label : Familial hypercholesterolaemia - homozygous;
ICD-11 definition : This is a homozygous genetic disorder characterized by high cholesterol levels, specifically
very high levels of low-density lipoprotein (LDL, bad cholesterol), in the blood and
early cardiovascular disease.;
Origin ID : 1525871199;
Currated CISMeF NLP mapping
This is a homozygous genetic disorder characterized by high cholesterol levels, specifically
very high levels of low-density lipoprotein (LDL, bad cholesterol), in the blood and
early cardiovascular disease.