1187541007: Beta chain electron transfer flavoprotein 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\Beta chain electron transfer flavoprotein deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutaric aciduria, type 2\Beta chain electron transfer flavoprotein deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Beta chain electron transfer flavoprotein deficiency (disorder)
\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\Beta chain electron transfer flavoprotein deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Beta chain electron transfer flavoprotein deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria\Glutaric aciduria, type 2\Beta chain electron transfer flavoprotein deficiency (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Beta chain electron transfer flavoprotein deficiency (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Glutaric aciduria, type 2\Beta chain electron transfer flavoprotein 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

4674111016 Beta chain electron transfer flavoprotein deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4674112011 Beta chain electron transfer flavoprotein deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

9996171000172118 déficience de la chaine bêta de l'ETF (electron transfer flavoprotein) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

9996181000172115 déficience de la chaine bêta de la flavoprotéine transporteur d'électrons fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7172221000172112 deficiëntie van bètaketen van 'electron transfer flavoprotein' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7172231000172110 ETFB-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Beta chain electron transfer flavoprotein deficiency (disorder)	Is a	Glutaric aciduria, type 2	true	Inferred relationship	Some
Beta chain electron transfer flavoprotein deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets