275598004: Familial lipoprotein lipase deficiency (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\Hyperlipoproteinaemia, type I

\Endogenous hyperlipidaemia\Primary genetic hyperlipidaemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Hyperlipoproteinaemia, type I

\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\Hyperlipoproteinaemia, type I
\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\Hyperlipoproteinaemia, type I
\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\Hyperlipoproteinaemia, type I
\Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidaemia\Chylomicronemia syndrome\Familial chylomicronemia syndrome\Hyperlipoproteinaemia, type I

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial chylomicronemia syndrome\Hyperlipoproteinaemia, type I
\Disease\Familial disease\Familial chylomicronemia syndrome\Hyperlipoproteinaemia, type I
\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\Hyperlipoproteinaemia, type I
\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\Hyperlipoproteinaemia, type I

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperlipoproteinaemia, type I	Is a	Hyperlipoproteinaemia	false	Inferred relationship	Some
Hyperlipoproteinaemia, type I	Is a	Congenital disease	false	Inferred relationship	Some
Hyperlipoproteinaemia, type I	Is a	Familial chylomicronemia syndrome	true	Inferred relationship	Some
Hyperlipoproteinaemia, type I	Interprets	Lipids measurement	true	Inferred relationship	Some	1
Hyperlipoproteinaemia, type I	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Hyperlipoproteinaemia, type I	Finding site	Body system structure	false	Inferred relationship	Some
Hyperlipoproteinaemia, type I	Occurrence	Congenital	false	Inferred relationship	Some	1
Hyperlipoproteinaemia, type I	Is a	Inborn error of metabolism	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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