22886006: Glutaric aciduria, type 2 (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

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

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

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Glutaric aciduria\Glutaric aciduria, type 2
\trouble métabolique\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2
\trouble métabolique\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria\Glutaric aciduria, type 2
\trouble métabolique\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

38413019 Glutaric aciduria, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

38414013 Ethylmalonic-adipicaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

38417018 Glutaric acidemia, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4637156012 MADD - multiple acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

481457011 Glutaric aciduria type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

481458018 MAD - Multiple acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

481460016 Glutaric acidaemia, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

752344016 Glutaric aciduria, type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutaric aciduria, type 2	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Glutaric aciduria, type 2	est un(e) (attribut)	Disorder of fatty acid metabolism	true	Inferred relationship	Some
Glutaric aciduria, type 2	est un(e) (attribut)	Glutaric aciduria	true	Inferred relationship	Some
Glutaric aciduria, type 2	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Glutaric aciduria, type 2	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Beta chain electron transfer flavoprotein deficiency (disorder)	est un(e) (attribut)	True	Glutaric aciduria, type 2	Inferred relationship	Some
Alpha chain electron transfer flavoprotein deficiency	est un(e) (attribut)	True	Glutaric aciduria, type 2	Inferred relationship	Some
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency	est un(e) (attribut)	True	Glutaric aciduria, type 2	Inferred relationship	Some
X-linked glutaric aciduria, type 2	est un(e) (attribut)	False	Glutaric aciduria, type 2	Inferred relationship	Some
Autosomal recessive glutaric aciduria, type 2	est un(e) (attribut)	False	Glutaric aciduria, type 2	Inferred relationship	Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	est un(e) (attribut)	False	Glutaric aciduria, type 2	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)