275598004: Familial lipoprotein lipase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\...
• \Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I
• \Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I
• \Disease\Familial disease\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.\Hyperlipoproteinemia, type I

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
411585017	Hepatosplenomegalic lipoidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
411586016	Endogenous hypertriglyceridaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
411587013	Familial fat-induced hypertriglyceridaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
411588015	Hypercholesterinaemic xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
411589011	Hyperlipoproteinemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
411590019	Hyperlipoproteinaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
411591015	Endogenous hypertriglyceridemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
411592010	Hypercholesterinemic xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
411593017	Familial fat-induced hypertriglyceridemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
668476016	Familial lipoprotein lipase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2771055015	Familial lipoprotein lipase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3903051014	Familial hyperlipoproteinaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3903052019	Familial hyperlipoproteinemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3903053012	Fredrickson type 1 hyperlipoproteinaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3903054018	Fredrickson type 1 hyperlipoproteinemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1823221000195118	deficit di lipoproteina lipasi familiare	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
951231000172115	déficit familial en lipoprotéine lipase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
987971000172110	déficit en LPL (lipoprotéine lipase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
427341000274115	Familiärer Lipoproteinlipase-Mangel	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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