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 (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:

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

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