444838008: deficiëntie van 2-methylbutyryl-co-enzym-A-dehydrogenase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of 2-methylbutyryl-CoA dehydrogenase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2872043010 Deficiency of 2-methylbutyryl-CoA dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971304016 Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971863018 Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6868391000146110 2-methylbutyryl-CoA-dehydrogenasdeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7149061000146110 tekort aan 2-methylbutyryl-CoA-dehydrogenase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8636421000146112 deficiëntie van 2-methylbutyryl-co-enzym-A-dehydrogenase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8674591000146117 deficiëntie van 2-methylbutyryl-co-enzym-A-dehydrogenase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8674601000146110 2-methylbutyryl-co-enzym-A-dehydrogenasedeficiëntie 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 2-methylbutyryl-CoA dehydrogenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
2-methylbutyryl glycinurie	Due to	False	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Inferred relationship	Some	1
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease	Due to	True	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Inferred relationship	Some	2

This concept is not in any reference sets