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87827003: Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
145603018 Isovaleryl-CoA dehydrogenase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
145604012 Isovaleric acidemia en Synonym Active Entire term case insensitive SNOMED CT core module
145605013 Isovaleric acid CoA dehydrogenase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
507767017 Isovaleric acidaemia en Synonym Active Entire term case insensitive SNOMED CT core module
1235279018 Isovaleric acid-CoA dehydrogenase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
2971563011 Isovaleryl-coenzyme A dehydrogenase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
2971687019 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Isovaleryl-coenzyme A dehydrogenase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Isovaleryl-coenzyme A dehydrogenase deficiency Is a Enzymopathy true Inferred relationship Existential restriction modifier
Isovaleryl-coenzyme A dehydrogenase deficiency Is a Acidemia true Inferred relationship Existential restriction modifier
Isovaleryl-coenzyme A dehydrogenase deficiency Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Existential restriction modifier
Isovaleryl-coenzyme A dehydrogenase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
Isovaleryl-coenzyme A dehydrogenase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Isovaleryl-coenzyme A dehydrogenase deficiency Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Blood spot isovaleric acidaemia screening test Has focus True Isovaleryl-coenzyme A dehydrogenase deficiency Inferred relationship Existential restriction modifier 3
Suspected isovaleric acidaemia Associated finding True Isovaleryl-coenzyme A dehydrogenase deficiency Inferred relationship Existential restriction modifier 1

This concept is not in any reference sets

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