Catalog
Familial hypercholesterolaemia
No MMS code
Link to WHO Definition
Familial hypercholesterolaemia – http://id.who.int/icd/entity/1958000898
Familial hypercholesterolaemia is a hereditary dyslipidaemia characterised by a permanent and isolated elevation in circulating low-density lipoprotein (LDL) levels caused by mutations in the genes related to LDLR and its function.