1306751004: 2-methylbutyryl-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\2-methylbutyryl-coenzyme A dehydrogenase deficiency disease
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\2-methylbutyryl-coenzyme A dehydrogenase deficiency disease
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inborn error of amino acid metabolism\2-methylbutyryl-coenzyme A dehydrogenase deficiency disease
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\2-methylbutyryl-coenzyme A dehydrogenase deficiency disease
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Disorder of isoleucine metabolism (disorder)\2-methylbutyryl-coenzyme A dehydrogenase deficiency disease
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Inborn error of amino acid metabolism\2-methylbutyryl-coenzyme A dehydrogenase deficiency disease

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
5315719015	2-methylbutyryl-coenzyme A dehydrogenase deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5315720014	2-methylbutyryl-coenzyme A dehydrogenase deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5315721013	2-methylbutyric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5315723011	Short/branched-chain acyl-coA dehydrogenase deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5315724017	ACADSB-gene related deficiency of 2-methylbutyryl-coenzyme A dehydrogenase	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5315725016	A rare organic aciduria with characteristics of impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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