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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency

\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
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Glutaric aciduria\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency
\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

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency

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

11859511000172116 déficit en ETF (electron-transferring-flavoprotein)-ubiquinone oxidoréductase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11859521000172114 anomalie congénitale de la glycosylation type 1k fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7374921000172118 EFT-QO-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7374931000172115 deficiëntie van 'electron transfer flavoprotein'-ubichinon-oxidoreductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7374941000172110 deficiëntie van 'electron transfer flavoprotein'-ubiquinon-oxidoreductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency	Is a	Glutaric aciduria, type 2	true	Inferred relationship	Some
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets