801000124108: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of dehydrogenase\2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2011. Module: US National Library of Medicine maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

1771000124111 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) US National Library of Medicine maintained module (core metadata concept)

1781000124114 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) US National Library of Medicine maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (disorder)	Is a	Deficiency of dehydrogenase	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets