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familiair chylomicronemiesyndroom (aandoening)
familiair chylomicronemiesyndroom
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 interpretationboven referentiebereik
Interpretsbepalen van lipiden
SNOMED CT to Orphanet simple map444490
SNOMED CT to ICD-10 extended map
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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