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)

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

\Congenital disease (disorder)\Inborn error of metabolism\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:

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

5841031000172116 déficit en methylmalonyl-CoA mutase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5064271000172116 deficiëntie van methylmalonyl-co-enzym A-mutase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5064281000172118 methylmalonyl-CoA-mutasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	Disorder of propionate AND/OR methylmalonate metabolism	true	Inferred relationship	Some
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

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	Some
Partial deficiency of methylmalonyl-CoA mutase	Is a	True	Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Inferred relationship	Some

This concept is not in any reference sets