124680001: Deficiency of methylmalonyl-coenzyme A mutase (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of methylmalonyl-coenzyme A mutase (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of methylmalonyl-coenzyme A mutase (disorder)

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Deficiency of methylmalonyl-coenzyme A mutase (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of methylmalonyl-coenzyme A mutase (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of propionate AND/OR methylmalonate metabolism\Deficiency of methylmalonyl-coenzyme A mutase (disorder)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of isomerase\Deficiency of mutase (disorder)\Deficiency of methylmalonyl-coenzyme A mutase (disorder)

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
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	Specific enzyme deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	Disorder of propionate AND/OR methylmalonate metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	Deficiency of mutase (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complete deficiency of methylmalonyl-CoA mutase	Is a	True	Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial deficiency of methylmalonyl-CoA mutase	Is a	True	Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
204943016	Deficiency of methylmalonyl-CoA mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2970811019	Deficiency of methylmalonyl-coenzyme A mutase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971533019	Deficiency of methylmalonyl-coenzyme A mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5438374013	Vitamin B12-unresponsive methylmalonic aciduria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
204943016	Deficiency of methylmalonyl-CoA mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
728407011	Deficiency of methylmalonyl-CoA mutase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2970811019	Deficiency of methylmalonyl-coenzyme A mutase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971533019	Deficiency of methylmalonyl-coenzyme A mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5438374013	Vitamin B12-unresponsive methylmalonic aciduria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3428541001000112	Methylmalonazidämie, Vitamin B12-resistente	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4777061000241116	déficit en methylmalonyl-CoA mutase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4777061000241116	déficit en methylmalonyl-CoA mutase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428541001000112	Methylmalonazidämie, Vitamin B12-resistente	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module