275598004: Familial lipoprotein lipase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Lipids outside reference range\Lipid above reference range\Hyperlipidaemia\Familial chylomicronemia syndrome (disorder)\Hyperlipoproteinemia, type I

\Disease\Genetic disease\Hereditary disease\Autosomal recessive hereditary disorder (disorder)\Familial chylomicronemia syndrome (disorder)\Hyperlipoproteinemia, type I
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Familial chylomicronemia syndrome (disorder)\Hyperlipoproteinemia, type I

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

411585017 Hepatosplenomegalic lipoidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

411586016 Endogenous hypertriglyceridaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

411587013 Familial fat-induced hypertriglyceridaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

411588015 Hypercholesterinaemic xanthomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

411589011 Hyperlipoproteinemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

411590019 Hyperlipoproteinaemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

411591015 Endogenous hypertriglyceridemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

411592010 Hypercholesterinemic xanthomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

411593017 Familial fat-induced hypertriglyceridemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

668476016 Familial lipoprotein lipase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

2771055015 Familial lipoprotein lipase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3903051014 Familial hyperlipoproteinaemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3903052019 Familial hyperlipoproteinemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3903053012 Fredrickson type 1 hyperlipoproteinaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

3903054018 Fredrickson type 1 hyperlipoproteinemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperlipoproteinemia, type I	Is a	Familial chylomicronemia syndrome (disorder)	true	Inferred relationship	Some
Hyperlipoproteinemia, type I	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Hyperlipoproteinemia, type I	Interprets	Lipids measurement	true	Inferred relationship	Some	1

Inbound Relationships

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Characteristic

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Reference Sets

International Patient Summary