267435002: Familial hyperchylomicronemia (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\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:

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

398865011 Burger-Grutz syndrome en Synonym (core metadata concept) Active 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

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