| 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. |
| | Id | 720940008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E78.4 | | Term | Overige gespecificeerde vormen van hyperlipidemie |
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| SNOMED CT to Orphanet simple map | 140905 |
| SNOMED CT to ICD-10 extended map | | Target | E78.4 | | Rule | TRUE | | Advice | ALWAYS E78.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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