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Familial chylomicronemia syndrome (disorder)
Familial chylomicronemia syndrome
A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis.
Id1197489003
StatusPrimitive
Has interpretationAbove reference range
InterpretsLipids measurement
ICD-10 complex map reference set
TargetE78.3
RuleTRUE
AdviceALWAYS E78.3 | 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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