237946002: partiële deficiëntie van methylmalonyl-co-enzym-A-mutase (aandoening)

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 (disorder)\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 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 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	Some
Partial deficiency of methylmalonyl-CoA mutase	Finding site	Body system structure	false	Inferred relationship	Some
Partial deficiency of methylmalonyl-CoA mutase	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial deficiency of methylmalonyl-CoA mutase	Is a	Deficiency of methylmalonyl-coenzyme A mutase (disorder)	true	Inferred relationship	Some

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
6067271000146119	partiële deficiëntie van methylmalonyl-CoA-mutase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6999821000146117	partiële methylmalonyl-co-enzym-A-mutasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9928391000146119	partiële deficiëntie van methylmalonyl-co-enzym-A-mutase (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9928401000146116	partiële deficiëntie van methylmalonyl-co-enzym-A-mutase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)