6885006: Cystathionine gamma-lyase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\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 gamma-lyase deficiency

\Enzymopathy\Specific enzyme deficiency\Cystathionine gamma-lyase 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

12386018 Cystathionine gamma-lyase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12387010 gamma-Cystathionase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2475148018 Deficiency of cystine desulphydrase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475149014 Deficiency of cysteine desulphydrase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475358013 Deficiency of cysteine desulfhydrase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475359017 Deficiency of cystine desulfhydrase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2478803016 Deficiency of homoserine deaminase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2478804010 Deficiency of cystathionase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

501110013 Gamma-cystathionase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

808731013 Cystathionine gamma-lyase 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 gamma-lyase deficiency	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Cystathionine gamma-lyase deficiency	est un(e) (attribut)	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
Cystathionine gamma-lyase deficiency	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Cystathionine gamma-lyase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some
Cystathionine gamma-lyase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada French language reference set (foundation metadata concept)