aandoening van coronairarterie	aandoening van myocard	autosomaal recessieve hereditaire aandoening	hereditaire aandoening van cardiovasculair systeem	stoornis in lipidenmetabolisme	structurele aandoening van hart	vetstapelingsstoornis
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primaire cardiomyovasculopathie met depositie van triglyceriden (aandoening)
	primaire cardiomyovasculopathie met depositie van triglyceriden
	primaire cardiomyovasculopathie met afzetting van triacylglycerol
	Primary triglyceride deposit cardiomyovasculopathy
	Neutral lipid storage disease with severe cardiovascular involvement
	A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.

Id	1279844009
Status	Primitive

Occurrence

Associated morphology	vetafzetting
Finding site	structuur van coronairarterie

Associated morphology	vetafzetting
Finding site	structuur van myocardium

SNOMED CT to Orphanet simple map

565612

SNOMED CT to ICD-10 extended map

Target	E75.5
Rule	TRUE
Advice	ALWAYS E75.5
Correlation	SNOMED CT source code to target map code correlation not specified

Target	I43.1
Rule	TRUE
Advice	ALWAYS I43.1 \| THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
Correlation	SNOMED CT source code to target map code correlation not specified