275598004: Familial lipoprotein lipase deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\...

\Finding of substance level\Finding of lipid level\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\...

\Hyperlipidemia with lipid deposition in skin\Primary chylomicronemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency

\Endogenous hyperlipidemia\Primary genetic hyperlipidemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency

\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin\Primary chylomicronemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidemia\Primary genetic hyperlipidemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin\Primary chylomicronemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidemia\Primary genetic hyperlipidemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency
\Disease\Familial disease\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin\Primary chylomicronemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Endogenous hyperlipidemia\Primary genetic hyperlipidemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Familial lipoprotein lipase deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

411585017 Hepatosplenomegalic lipoidosis en Synonym Active Entire term case insensitive SNOMED CT core module
411586016 Endogenous hypertriglyceridaemia en Synonym Active Entire term case insensitive SNOMED CT core module
411587013 Familial fat-induced hypertriglyceridaemia en Synonym Active Entire term case insensitive SNOMED CT core module
411588015 Hypercholesterinaemic xanthomatosis en Synonym Active Entire term case insensitive SNOMED CT core module
411589011 Hyperlipoproteinemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module
411590019 Hyperlipoproteinaemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module
411591015 Endogenous hypertriglyceridemia en Synonym Active Entire term case insensitive SNOMED CT core module
411592010 Hypercholesterinemic xanthomatosis en Synonym Active Entire term case insensitive SNOMED CT core module
411593017 Familial fat-induced hypertriglyceridemia en Synonym Active Entire term case insensitive SNOMED CT core module
668476016 Familial lipoprotein lipase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2771055015 Familial lipoprotein lipase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3903051014 Familial hyperlipoproteinaemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module
3903052019 Familial hyperlipoproteinemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module
3903053012 Fredrickson type 1 hyperlipoproteinaemia en Synonym Active Entire term case sensitive SNOMED CT core module
3903054018 Fredrickson type 1 hyperlipoproteinemia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial lipoprotein lipase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier
Familial lipoprotein lipase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Familial lipoprotein lipase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Familial lipoprotein lipase deficiency	Is a	Hyperlipoproteinemia	false	Inferred relationship	Existential restriction modifier
Familial lipoprotein lipase deficiency	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier
Familial lipoprotein lipase deficiency	Is a	Familial chylomicronemia syndrome	true	Inferred relationship	Existential restriction modifier
Familial lipoprotein lipase deficiency	Interprets	Lipids measurement	true	Inferred relationship	Existential restriction modifier	1
Familial lipoprotein lipase deficiency	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
411585017	Hepatosplenomegalic lipoidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
411586016	Endogenous hypertriglyceridaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
411587013	Familial fat-induced hypertriglyceridaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
411588015	Hypercholesterinaemic xanthomatosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
411589011	Hyperlipoproteinemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
411590019	Hyperlipoproteinaemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
411591015	Endogenous hypertriglyceridemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
411592010	Hypercholesterinemic xanthomatosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
411593017	Familial fat-induced hypertriglyceridemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
668476016	Familial lipoprotein lipase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2771055015	Familial lipoprotein lipase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3903051014	Familial hyperlipoproteinaemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3903052019	Familial hyperlipoproteinemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3903053012	Fredrickson type 1 hyperlipoproteinaemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3903054018	Fredrickson type 1 hyperlipoproteinemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module