| familiaire deficiëntie van lecithine-cholesterolacyltransferase (aandoening) | | familiaire deficiëntie van lecithine-cholesterolacyltransferase | | familiaire LCAT-deficiëntie
familiaire fosfatidylcholine-sterol-O-acyltransferasedeficiëntie
| | Familial lecithin cholesterol acyltransferase deficiency | | Norum disease
Complete LCAT (lecithin-cholesterol acyltransferase) deficiency
Complete LCAT deficiency
| | A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyzes the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder. |
| | Id | 1264565005 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | E78.6 | | Rule | TRUE | | Advice | ALWAYS E78.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
