87827003: Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Isovaleryl-CoA dehydrogenase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Isovaleryl-CoA dehydrogenase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Isovaleryl-CoA dehydrogenase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Isovaleryl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Isovaleryl-CoA dehydrogenase deficiency
\Metabolic disease\Enzymopathy\Isovaleryl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Isovaleryl-CoA dehydrogenase deficiency

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

145603018 Isovaleryl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

145604012 Isovaleric acidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

145605013 Isovaleric acid CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

507767017 Isovaleric acidaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1235279018 Isovaleric acid-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971563011 Isovaleryl-coenzyme A dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971687019 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5310035019 IVD-gene related isovaleryl-coenzyme A dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isovaleryl-CoA dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Isovaleryl-CoA dehydrogenase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Isovaleryl-CoA dehydrogenase deficiency	Is a	Acidemia	true	Inferred relationship	Some
Isovaleryl-CoA dehydrogenase deficiency	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
Isovaleryl-CoA dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Isovaleryl-CoA dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Isovaleryl-CoA dehydrogenase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets