444838008: Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (disorder)

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

5345281000241119 déficit en 2-methylbutyryl-CoA déshydrogénase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3435951001000113 2-Methylbutyryl-CoA-Dehydrogenase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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-méthylbutyrylglycinurie	Due to	False	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Inferred relationship	Some	1
A rare organic aciduria with characteristics of impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.	Due to	True	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Inferred relationship	Some	2

This concept is not in any reference sets