128596003: Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency
• \Metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency
• \Metabolic disease\Enzymopathy\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency
• \Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
206973010	MCAD deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
206974016	Medium-chain acyl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
474498010	MCAD - Medium chain acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
474499019	Medium chain acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
732608012	Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3443961000052118	brist på medellångkedjigt acyl-CoA-dehydrogenas	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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