1306747001: Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Disorder of valine metabolism (disorder)\Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Inborn error of amino acid metabolism\Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5315697014	Isobutyric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5315698016	Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5315700013	Isobutyryl-CoA dehydrogenase deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5315711017	ACAD8-gene related deficiency of isobutyryl-coenzyme A dehydrogenase	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5315718011	Isobutyryl-coenzyme A dehydrogenase deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5315712012	An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5315713019	An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programmes relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5315697014	Isobutyric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5315698016	Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5315700013	Isobutyryl-CoA dehydrogenase deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5315711017	ACAD8-gene related deficiency of isobutyryl-coenzyme A dehydrogenase	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5315718011	Isobutyryl-coenzyme A dehydrogenase deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5315712012	An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5315713019	An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programmes relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Component annotation with string value reference set (foundation metadata concept)

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