1187534001: Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Glutaric aciduria\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674097019	Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674098012	Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674097019	Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674098012	Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6107681000241112	déficit en ETF (electron-transferring-flavoprotein)-ubiquinone oxidoréductase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6107691000241114	anomalie congénitale de la glycosylation type 1k	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6107681000241112	déficit en ETF (electron-transferring-flavoprotein)-ubiquinone oxidoréductase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6107691000241114	anomalie congénitale de la glycosylation type 1k	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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