13144005: Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Methylcrotonyl-coenzyme A carboxylase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Methylcrotonyl-coenzyme A carboxylase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Methylcrotonyl-coenzyme A carboxylase deficiency
• \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\Methylcrotonyl-coenzyme A carboxylase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Methylcrotonyl-coenzyme A carboxylase deficiency
• \Metabolic disease\Enzymopathy\Methylcrotonyl-coenzyme A carboxylase deficiency
• \Congenital disease\Inborn error of metabolism\Methylcrotonyl-coenzyme A carboxylase deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
22495011	Methylcrotonyl-CoA carboxylase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
22496012	BMCC deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
22497015	MCC deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
195517016	beta-Methylcrotonylglycinuria, type 1	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1220921018	3-Methylcrotonyl-CoA carboxylase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2971660018	Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
2971885012	Methylcrotonyl-coenzyme A carboxylase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

Back to Start