267435002: Familial hyperchylomicronemia (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\Hypertriglyceridemia\Primary hypertriglyceridemia\Familial hypertriglyceridemia\Familial hyperchylomicronemia

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

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

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

398860018 Hyperchylomicronemia en Synonym Active Entire term case insensitive SNOMED CT core module
398861019 Primary hyperchylomicronemia en Synonym Active Entire term case insensitive SNOMED CT core module
398862014 Primary hyperchylomicronaemia en Synonym Active Entire term case insensitive SNOMED CT core module
398863016 Familial hyperchylomicronemia en Synonym Active Entire term case insensitive SNOMED CT core module
398864010 Familial lipoprotein lipase deficiency en Synonym Inactive Only initial character case insensitive SNOMED CT core module
398865011 Burger-Grutz syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
398866012 Familial LPL deficiency en Synonym Inactive Only initial character case insensitive SNOMED CT core module
398867015 Familial hyperchylomicronaemia en Synonym Active Entire term case insensitive SNOMED CT core module
398868013 Hyperchylomicronaemia en Synonym Active Entire term case insensitive SNOMED CT core module
660051013 Familial hyperchylomicronemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hyperchylomicronemia	Is a	Primary hypertriglyceridemia	false	Inferred relationship	Existential restriction modifier
Familial hyperchylomicronemia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Familial hyperchylomicronemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Familial hyperchylomicronemia	Is a	Familial hypertriglyceridemia	true	Inferred relationship	Existential restriction modifier
Familial hyperchylomicronemia	Has definitional manifestation	Serum lipids above reference range	false	Inferred relationship	Existential restriction modifier
Familial hyperchylomicronemia	Has definitional manifestation	Lipid above reference range	false	Inferred relationship	Existential restriction modifier
Familial hyperchylomicronemia	Interprets	Lipids measurement	true	Inferred relationship	Existential restriction modifier	1
Familial hyperchylomicronemia	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial apolipoprotein C-II deficiency	Is a	False	Familial hyperchylomicronemia	Inferred relationship	Existential restriction modifier
Familial lipoprotein lipase deficiency with type I phenotype	Is a	True	Familial hyperchylomicronemia	Inferred relationship	Existential restriction modifier
Familial lipoprotein lipase deficiency with type V phenotype	Is a	True	Familial hyperchylomicronemia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets