bevinding betreffende bepaling van cholesterol	genetische aandoening	HDL onder referentiebereik	hypoalfalipoproteïnemie	troebeling van cornea
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deficiëntie van lecithine-cholesterolacyltransferase (aandoening)
	deficiëntie van lecithine-cholesterolacyltransferase
	LCAT-deficiëntie fosfatidylcholine-sterol-O-acyltransferasedeficiëntie
	Lecithin cholesterol acyltransferase deficiency
	LCAT deficiency LCAT (lecithin-cholesterol acyltransferase) deficiency
	LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.

Id	238091006
Status	Primitive

Associated morphology	troebeling
Finding site	structuur van cornea

Has interpretation	onder referentiebereik
Interprets	bepalen van HDL-cholesterol

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E78.6
Term	Lipoproteïnedeficiëntie

SNOMED CT to Orphanet simple map

650

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

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familiaire deficiëntie van lecithine-cholesterolacyltransferase

fish-eye disease