13144005: Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Non-amino organic acidemia AND/OR aciduria\A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
\Metabolic disease\Enzymopathy\A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	Is a	Non-amino organic acidemia AND/OR aciduria	true	Inferred relationship	Some
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	Is a	Enzymopathy	true	Inferred relationship	Some
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	Finding site	Body system structure	false	Inferred relationship	Some
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
5444762019	A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5444763012	A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
22495011	Methylcrotonyl-CoA carboxylase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22496012	BMCC deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
22497015	MCC deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
195517016	beta-Methylcrotonylglycinuria, type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1220921018	3-Methylcrotonyl-CoA carboxylase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971660018	Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971885012	Methylcrotonyl-coenzyme A carboxylase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4432791000241115	déficit en méthylcrotonyl-CoA carboxylase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451351001000112	3-Methylcrotonyl-CoA-Carboxylase-Mangel, isolierter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module