24308003: Cystathionine beta-synthase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Cystathionine beta-synthase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystathionine beta-synthase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Cystathionine beta-synthase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulfur-bearing amino acid metabolism\Cystathionine beta-synthase deficiency
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Cystathionine beta-synthase deficiency
• \Congenital disease\Inborn error of metabolism\Cystathionine beta-synthase deficiency

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
40795013	Cystathionine beta-synthase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
40796014	CBS deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
753930012	Cystathionine beta-synthase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2474989014	Deficiency of serine sulphydrase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2475191011	Deficiency of serine sulfhydrase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2475928012	Deficiency of methylcysteine synthase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2475929016	Deficiency of beta-thionase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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