124594007: deficiëntie van malonyl-co-enzym A-decarboxylase (aandoening)

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

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
728308017 Deficiency of malonyl-CoA decarboxylase (disorder) en Fully specified name Inactive 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
364821000146114 malonacidurie nl Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
364831000146111 malonacidurie (aandoening) nl Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7671011000146114 deficiëntie van malonyl-CoA-decarboxylase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7671021000146116 MCD-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8636931000146116 deficiëntie van malonyl-co-enzym A-decarboxylase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8713301000146115 deficiëntie van malonyl-co-enzym A-decarboxylase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of malonyl-CoA decarboxylase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of malonyl-CoA decarboxylase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of malonyl-CoA decarboxylase	Is a	Disorder of fatty acid metabolism	false	Inferred relationship	Some
Deficiency of malonyl-CoA decarboxylase	Occurrence	Congenital	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Malonic aciduria	Due to	True	Deficiency of malonyl-CoA decarboxylase	Inferred relationship	Some	2

Reference Sets