1187542000: deficiëntie van alfaketen van 'electron transfer flavoprotein' (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2\Alpha chain electron transfer flavoprotein deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutaric aciduria, type 2\Alpha chain electron transfer flavoprotein deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2\Alpha chain electron transfer flavoprotein deficiency

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

4674113018 Alpha chain electron transfer flavoprotein deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4674114012 Alpha chain electron transfer flavoprotein deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

13238931000146117 deficiëntie van alfaketen van 'electron transfer flavoprotein' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13238941000146113 deficiëntie van alfaketen van 'electron transfer flavoprotein' (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13238951000146111 ETFA-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

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This concept is not in any reference sets