24308003: Cystathionine beta-synthase deficiency (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Cystathionine beta-synthase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystathionine beta-synthase deficiency

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Cystathionine beta-synthase deficiency
\trouble métabolique\Inborn error of metabolism\Cystathionine beta-synthase deficiency
\trouble métabolique\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2474989014 Deficiency of serine sulphydrase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475191011 Deficiency of serine sulfhydrase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475928012 Deficiency of methylcysteine synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475929016 Deficiency of beta-thionase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

40795013 Cystathionine beta-synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

40796014 CBS deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

753930012 Cystathionine beta-synthase deficiency (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
Cystathionine beta-synthase deficiency	est un(e) (attribut)	Homocystinuria	false	Inferred relationship	Some
Cystathionine beta-synthase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cystathionine beta-synthase deficiency	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Cystathionine beta-synthase deficiency	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Cystathionine beta-synthase deficiency	est un(e) (attribut)	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
Cystathionine beta-synthase deficiency	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Cystathionine beta-synthase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Cystathionine beta-synthase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets