1197489003: Familial chylomicronemia syndrome (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)\Familial chylomicronemia syndrome (disorder)

\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)

\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)\Familial chylomicronemia syndrome (disorder)
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)
\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)\Familial chylomicronemia syndrome (disorder)
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial chylomicronemia syndrome (disorder)
\Disease\Familial disease\Familial chylomicronemia syndrome (disorder)
\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)\Familial chylomicronemia syndrome (disorder)
\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)\Familial chylomicronemia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

4696547019 Familial chylomicronemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

13719971000172118 familiaal chylomicronemiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial chylomicronemia syndrome (disorder)	Is a	Familial disease	true	Inferred relationship	Some
Familial chylomicronemia syndrome (disorder)	Is a	Chylomicronemia syndrome (disorder)	true	Inferred relationship	Some
Familial chylomicronemia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial chylomicronemia syndrome (disorder)	Interprets	Lipids measurement	true	Inferred relationship	Some	1
Familial chylomicronemia syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial apolipoprotein C-II deficiency	Is a	True	Familial chylomicronemia syndrome (disorder)	Inferred relationship	Some
Hyperlipoproteinemia, type I	Is a	True	Familial chylomicronemia syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4696546011	Familial chylomicronemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696547019	Familial chylomicronemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13719971000172118	familiaal chylomicronemiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)