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267435002: familiaire hyperchylomicronemie (aandoening)

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\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridemia\Familial hyperchylomicronemia

\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridemia\Familial hyperchylomicronemia
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridemia\Familial hyperchylomicronemia

\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hypertriglyceridaemia\Primary hypertriglyceridaemia\Familial hypertriglyceridemia\Familial hyperchylomicronemia

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hyperchylomicronemia	Is a	Primary hypertriglyceridaemia	false	Inferred relationship	Some
Familial hyperchylomicronemia	Occurrence	Congenital	false	Inferred relationship	Some
Familial hyperchylomicronemia	Finding site	Body system structure	false	Inferred relationship	Some
Familial hyperchylomicronemia	Is a	Familial hypertriglyceridemia	true	Inferred relationship	Some
Familial hyperchylomicronemia	Has definitional manifestation	Serum lipids above reference range (finding)	false	Inferred relationship	Some
Familial hyperchylomicronemia	Has definitional manifestation	Lipid above reference range	false	Inferred relationship	Some
Familial hyperchylomicronemia	Interprets	Lipids measurement	true	Inferred relationship	Some	1
Familial hyperchylomicronemia	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	False	Familial hyperchylomicronemia	Inferred relationship	Some
Familial lipoprotein lipase deficiency with type I phenotype (disorder)	Is a	True	Familial hyperchylomicronemia	Inferred relationship	Some
Familial lipoprotein lipase deficiency with type V phenotype (disorder)	Is a	True	Familial hyperchylomicronemia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
398860018	Hyperchylomicronemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
398861019	Primary hyperchylomicronemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
398862014	Primary hyperchylomicronaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
398863016	Familial hyperchylomicronemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
398864010	Familial lipoprotein lipase deficiency	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
398865011	Burger-Grutz syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
398866012	Familial LPL deficiency	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
398867015	Familial hyperchylomicronaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
398868013	Hyperchylomicronaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
660051013	Familial hyperchylomicronemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
55791000146110	hyperchylomicronemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1284211000146111	familiaire hyperchylomicronemie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1284221000146118	familiaire hyperchylomicronemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)