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levergebonden lipasedeficiëntie (aandoening)
levergebonden lipasedeficiëntie
hepatische lipasedeficiëntie
levergebonden deficiëntie van lipase
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE78.4
TermOverige gespecificeerde vormen van hyperlipidemie
SNOMED CT to Orphanet simple map140905
SNOMED CT to ICD-10 extended map
TargetE78.4
RuleTRUE
AdviceALWAYS E78.4
CorrelationSNOMED CT source code to target map code correlation not specified