24308003: Cystathionine beta-synthase deficiency (disorder)

SNOMED CT Concept\Clinical finding (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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\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 sulphur-bearing amino acid metabolism\Cystathionine beta-synthase deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\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

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

Expanded Value Set

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