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levergebonden lipasedeficiëntie (aandoening)
levergebonden lipasedeficiëntie
levergebonden deficiëntie van lipase
hepatische lipasedeficiëntie
Hepatic lipase deficiency
Hyperlipidemia due to hepatic triglyceride lipase deficiency
A disorder that affects the ability to break down lipids leading to increased amounts of triglycerides and cholesterol in the blood. Caused by mutations in the lipase C hepatic type (LIPC) gene. This gene provides instructions for making hepatic lipase. LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result very low-density lipoproteins and intermediate-density lipoproteins are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglyceride remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency.
Id720940008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE78.4
RuleTRUE
AdviceALWAYS E78.4
CorrelationSNOMED CT source code to target map code correlation not specified