34528009: Familial hypertriglyceridemia (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

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

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

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

57626015 Familial hypertriglyceridemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

213740012 Familial hypertriglyceridaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

766062017 Familial hypertriglyceridemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1994031000005118 familiær hypertriglyceridæmi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypertriglyceridemia	Is a	Primary hypertriglyceridaemia	true	Inferred relationship	Some
Familial hypertriglyceridemia	Finding site	Body system structure	false	Inferred relationship	Some
Familial hypertriglyceridemia	Occurrence	Congenital	false	Inferred relationship	Some
Familial hypertriglyceridemia	Has definitional manifestation	Serum lipids above reference range (finding)	false	Inferred relationship	Some
Familial hypertriglyceridemia	Has definitional manifestation	Lipid above reference range	false	Inferred relationship	Some
Familial hypertriglyceridemia	Has interpretation	Above reference range (qualifier value)	true	Inferred relationship	Some	1
Familial hypertriglyceridemia	Interprets	Lipids measurement	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fredrickson type IV hyperlipoproteinemia	Is a	True	Familial hypertriglyceridemia	Inferred relationship	Some
Familial type 5 hyperlipoproteinemia	Is a	True	Familial hypertriglyceridemia	Inferred relationship	Some
Very low density lipoprotinemia	Is a	True	Familial hypertriglyceridemia	Inferred relationship	Some
Familial hyperchylomicronemia	Is a	True	Familial hypertriglyceridemia	Inferred relationship	Some
A rare genetic hepatic disease characterised by massive hepatomegaly, moderate to severe transient hypertriglyceridaemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalisation of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13.	Is a	True	Familial hypertriglyceridemia	Inferred relationship	Some

This concept is not in any reference sets