124594007: Deficiency of malonyl-coenzyme A decarboxylase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of malonyl-coenzyme A decarboxylase (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

204705013 Deficiency of malonyl-CoA decarboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2162094013 Malonyl-CoA decarboxylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971680017 Deficiency of malonyl-coenzyme A decarboxylase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971874010 Deficiency of malonyl-coenzyme A decarboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204705013 Deficiency of malonyl-CoA decarboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728308017 Deficiency of malonyl-CoA decarboxylase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2162094013 Malonyl-CoA decarboxylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971680017 Deficiency of malonyl-coenzyme A decarboxylase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971874010 Deficiency of malonyl-coenzyme A decarboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4775741000241114 déficit en malonyl-CoA decarboxylase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4775741000241114 déficit en malonyl-CoA decarboxylase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Is a	Disorder of fatty acid metabolism (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Malonic aciduria	Due to	True	Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Reference Sets