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24308003: deficiëntie van cystathionine-bètasynthase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Cystathionine beta-synthase deficiency (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Cystathionine beta-synthase deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Cystathionine beta-synthase deficiency (disorder)
\Metabolic disease\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 (disorder)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Cystathionine beta-synthase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cystathionine beta-synthase deficiency (disorder)	Is a	Homocystinuria	false	Inferred relationship	Some
Cystathionine beta-synthase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cystathionine beta-synthase deficiency (disorder)	Is a	Enzymopathy	false	Inferred relationship	Some
Cystathionine beta-synthase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Cystathionine beta-synthase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cystathionine beta-synthase deficiency (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Cystathionine beta-synthase deficiency (disorder)	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
Cystathionine beta-synthase deficiency (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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
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
5030491000146110	cystathionine-bètasynthasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8644921000146111	deficiëntie van cystathionine-bètasynthase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8713001000146118	deficiëntie van cystathionine-bètasynthase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)