Cholesterol level - finding
Corneal opacity
Genetic disease
High density lipoprotein below reference range
Hypoalphalipoproteinemia
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Lecithin cholesterol acyltransferase deficiency (disorder)
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.
Id238091006
StatusPrimitive
Associated morphologyOpacity
Finding siteCorneal structure
Has interpretationBelow reference range
InterpretsHigh density lipoprotein cholesterol measurement
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE78.6
TermLipoproteïnedeficiëntie
SNOMED CT to ICD-10 extended map
TargetE78.6
RuleTRUE
AdviceALWAYS E78.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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Familial lecithin cholesterol acyltransferase deficiency
Fish-eye disease