22886006: Glutaric aciduria, type 2 (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutaric aciduria, type 2

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Glutaric aciduria\Glutaric aciduria, type 2
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2
\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria\Glutaric aciduria, type 2
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2

\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2

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

38413019 Glutaric aciduria, type 2 en Synonym Active Entire term case insensitive SNOMED CT core module
38414013 Ethylmalonic-adipicaciduria en Synonym Active Entire term case insensitive SNOMED CT core module
38415014 ACAD en Synonym Inactive Entire term case sensitive SNOMED CT core module
38416010 GA II en Synonym Inactive Entire term case sensitive SNOMED CT core module
38417018 Glutaric acidemia, type 2 en Synonym Active Entire term case insensitive SNOMED CT core module
38418011 EMA en Synonym Inactive Entire term case sensitive SNOMED CT core module
481457011 Glutaric aciduria type II en Synonym Active Only initial character case insensitive SNOMED CT core module
481458018 MAD - Multiple acyl-CoA dehydrogenase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
481459014 Multiple acyl-CoA dehydrogenase deficiencies en Synonym Inactive Only initial character case insensitive SNOMED CT core module
481460016 Glutaric acidaemia, type 2 en Synonym Active Entire term case insensitive SNOMED CT core module
752344016 Glutaric aciduria, type 2 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4637156012 MADD - multiple acyl-CoA dehydrogenase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutaric aciduria, type 2	Is a	Disorder of fatty acid metabolism	true	Inferred relationship	Existential restriction modifier
Glutaric aciduria, type 2	Is a	Glutaric aciduria	true	Inferred relationship	Existential restriction modifier
Glutaric aciduria, type 2	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Glutaric aciduria, type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Glutaric aciduria, type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked glutaric aciduria, type 2	Is a	False	Glutaric aciduria, type 2	Inferred relationship	Existential restriction modifier
Autosomal recessive glutaric aciduria, type 2	Is a	False	Glutaric aciduria, type 2	Inferred relationship	Existential restriction modifier
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency	Is a	False	Glutaric aciduria, type 2	Inferred relationship	Existential restriction modifier
Beta chain electron transfer flavoprotein deficiency	Is a	True	Glutaric aciduria, type 2	Inferred relationship	Existential restriction modifier
Alpha chain electron transfer flavoprotein deficiency	Is a	True	Glutaric aciduria, type 2	Inferred relationship	Existential restriction modifier
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency	Is a	True	Glutaric aciduria, type 2	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets