237946002: Partial 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)\Partial deficiency of methylmalonyl-CoA mutase

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

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

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

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
Partial deficiency of methylmalonyl-CoA mutase	Is a	Methylmalonyl-CoA mutase deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial deficiency of methylmalonyl-CoA mutase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial deficiency of methylmalonyl-CoA mutase	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial deficiency of methylmalonyl-CoA mutase	Is a	Deficiency of methylmalonyl-coenzyme A mutase (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356626012	Partial deficiency of methylmalonyl-CoA mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356627015	Mutase- methylmalonic acidaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356628013	Mutase- methylmalonic acidemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2971049011	Partial deficiency of methylmalonyl-coenzyme A mutase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971449019	Partial deficiency of methylmalonyl-coenzyme A mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5353513015	Vitamin B12-unresponsive methylmalonic acidaemia type mut-	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5353514014	Vitamin B12-unresponsive methylmalonic acidemia type mut-	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5353515010	MMUT-gene related partial deficiency of methylmalonyl-coenzyme A mutase	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356626012	Partial deficiency of methylmalonyl-CoA mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356627015	Mutase- methylmalonic acidaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356627015	Mutase- methylmalonic acidaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356628013	Mutase- methylmalonic acidemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356628013	Mutase- methylmalonic acidemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626753014	Partial deficiency of methylmalonyl-CoA mutase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971049011	Partial deficiency of methylmalonyl-coenzyme A mutase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971449019	Partial deficiency of methylmalonyl-coenzyme A mutase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5353513015	Vitamin B12-unresponsive methylmalonic acidaemia type mut-	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5353514014	Vitamin B12-unresponsive methylmalonic acidemia type mut-	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5353515010	MMUT-gene related partial deficiency of methylmalonyl-coenzyme A mutase	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3390341001000115	Methylmalonazidämie, Vitamin B12-resistente, Typ mut-	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6432091000241113	déficit partiel en méthylmalonyl-CoA (coenzyme A) mutase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6432101000241116	déficit partiel en méthylmalonyl-coenzyme A mutase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6432111000241119	AMR (acidémie méthylmalonique résistante à la vitamine B12) partielle	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6432091000241113	déficit partiel en méthylmalonyl-CoA (coenzyme A) mutase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6432101000241116	déficit partiel en méthylmalonyl-coenzyme A mutase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6432111000241119	AMR (acidémie méthylmalonique résistante à la vitamine B12) partielle	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3390341001000115	Methylmalonazidämie, Vitamin B12-resistente, Typ mut-	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module