49748000: Succinate-semialdehyde dehydrogenase deficiency (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Succinate-semialdehyde dehydrogenase deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Succinate-semialdehyde dehydrogenase deficiency (disorder)

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of beta and omega amino acid metabolism\Succinate-semialdehyde dehydrogenase deficiency (disorder)
\trouble métabolique\Inborn error of metabolism\Succinate-semialdehyde dehydrogenase deficiency (disorder)
\trouble métabolique\Enzymopathy\Succinate-semialdehyde dehydrogenase deficiency (disorder)
\trouble métabolique\Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism\Succinate-semialdehyde dehydrogenase deficiency (disorder)

\Congenital disease\Inborn error of metabolism\Succinate-semialdehyde dehydrogenase deficiency (disorder)

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

198204019 Succinic semialdehyde dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3781254017 4-Hydroxybutyric aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

495490017 Gamma-hydroxybutyric acidaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

495491018 Gamma-hydroxybutyric acidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

787460015 Succinate-semialdehyde dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

82857019 Succinate-semialdehyde dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

82858012 GABAuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

82859016 gamma-Hydroxybutyric aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

82860014 GABA metabolic defect 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
Succinate-semialdehyde dehydrogenase deficiency (disorder)	est un(e) (attribut)	Disorder of beta and omega amino acid metabolism	true	Inferred relationship	Some
Succinate-semialdehyde dehydrogenase deficiency (disorder)	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Succinate-semialdehyde dehydrogenase deficiency (disorder)	est un(e) (attribut)	Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism	true	Inferred relationship	Some
Succinate-semialdehyde dehydrogenase deficiency (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Succinate-semialdehyde dehydrogenase deficiency (disorder)	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Succinate-semialdehyde dehydrogenase deficiency (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Succinate-semialdehyde dehydrogenase deficiency (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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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)