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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 rare hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.
Id720940008
StatusPrimitive
DHD Diagnosis thesaurus reference set
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