Autosomal recessive hereditary disorder
Disorder of lipid storage and metabolism
Enzymopathy
Erythrocyte membrane abnormality
Hereditary red blood cell disorder
Inborn error of metabolism
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Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
Phosphatidylcholine-sterol acyltransferase deficiency
Norum disease
LCAT deficiency
LCAT - Lecithin-cholesterol acyltransferase deficiency
Norum's disease
Familial lecithin-cholesterol acyltransferase deficiency
fosfatidylcholine-sterol-O-acyltransferasedeficiëntie
Id49227001
StatusPrimitive
Finding siteErythrocyte
OccurrenceCongenital
ICD-10 complex map reference set
TargetE78.6
RuleTRUE
AdviceALWAYS E78.6
CorrelationSNOMED CT source code to target map code correlation not specified