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

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	Some
Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Is a	Disorder of fatty acid metabolism	false	Inferred relationship	Some
Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder.	Due to	True	Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Inferred relationship	Some	2

Reference Sets