1197489003: Familial chylomicronemia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\...
• \Hyperlipidaemia with lipid deposition in skin\Primary chylomicronemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome
• \Endogenous hyperlipidaemia\Primary genetic hyperlipidaemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Hyperlipidaemia with lipid deposition in skin\Primary chylomicronemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidaemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hyperlipidaemia with lipid deposition in skin\Primary chylomicronemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidaemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial chylomicronemia syndrome
• \Disease\Familial disease\Familial chylomicronemia syndrome
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Hyperlipidaemia with lipid deposition in skin\Primary chylomicronemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidaemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696546011	Familial chylomicronemia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4696547019	Familial chylomicronemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4696550016	A rare genetic hyperlipidaemia characterised 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, diarrhoea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis.	en	Definition	Active	Case sensitive	SNOMED CT core
4696551017	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.	en	Definition	Active	Case sensitive	SNOMED CT core

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