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49748000: 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
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
198204019 Succinic semialdehyde dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (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
3781254017 4-Hydroxybutyric aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5259268011 SSADH (succinic semialdehyde dehydrogenase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
82857019 Succinate-semialdehyde dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character 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
198204019 Succinic semialdehyde dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
198204019 Succinic semialdehyde dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495489014 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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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
3781254017 4-Hydroxybutyric aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5259268011 SSADH (succinic semialdehyde dehydrogenase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3407811001000116 Succinat-Semialdehyd-Dehydrogenase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4552291000241116 déficit en succinate-semialdéhyde déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4552291000241116 déficit en succinate-semialdéhyde déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3407811001000116 Succinat-Semialdehyd-Dehydrogenase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Succinate-semialdehyde dehydrogenase deficiency (disorder) Is a Disorder of beta and omega amino acid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Succinate-semialdehyde dehydrogenase deficiency (disorder) Is a Enzymopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Succinate-semialdehyde dehydrogenase deficiency (disorder) Is a Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Succinate-semialdehyde dehydrogenase deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Succinate-semialdehyde dehydrogenase deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Succinate-semialdehyde dehydrogenase deficiency (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Succinate-semialdehyde dehydrogenase deficiency (disorder) Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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