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-CoA mutase

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of methylmalonyl-CoA mutase

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Deficiency of methylmalonyl-CoA mutase

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

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

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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complete deficiency of methylmalonyl-CoA mutase	Is a	True	Deficiency of methylmalonyl-CoA mutase	Inferred relationship	Some
Partial deficiency of methylmalonyl-CoA mutase	Is a	True	Deficiency of methylmalonyl-CoA mutase	Inferred relationship	Some

This concept is not in any reference sets