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-CoA carboxylase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Methylcrotonyl-CoA carboxylase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Methylcrotonyl-CoA carboxylase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Methylcrotonyl-CoA carboxylase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Non-amino organic acidaemia AND/OR aciduria\Methylcrotonyl-CoA carboxylase deficiency
• \Metabolic disease\Enzymopathy\Methylcrotonyl-CoA carboxylase deficiency
• \Congenital disease\Inborn error of metabolism\Methylcrotonyl-CoA carboxylase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1220921018	3-Methylcrotonyl-CoA carboxylase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
195517016	beta-Methylcrotonylglycinuria, type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
22495011	Methylcrotonyl-CoA carboxylase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
22496012	BMCC deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
22497015	MCC deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
2971660018	Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
2971885012	Methylcrotonyl-coenzyme A carboxylase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3334396012	An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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