6885006: deficiëntie van cystathioningammalyase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cystathionine gamma-lyase deficiency	Is a	Disorder of sulphur-bearing amino acid metabolism	false	Inferred relationship	Some
Cystathionine gamma-lyase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Cystathionine gamma-lyase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Cystathionine gamma-lyase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Cystathionine gamma-lyase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cystathioninuria	Due to	True	Cystathionine gamma-lyase deficiency	Inferred relationship	Some	1

Reference Sets

GB English

US English

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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)	Inactive	Entire term case sensitive (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
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
684151000146119	gamma-cysthathionase deficiëntie (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
684161000146116	gamma-cysthathionase deficiëntie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8636901000146114	gamma-cysthathionasedeficiëntie (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8714901000146117	deficiëntie van gamma-cysthathionase	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8714911000146115	gamma-cysthathionasedeficiëntie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12063951000146113	deficiëntie van cystathioningammalyase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12063961000146111	deficiëntie van cystathioningammalyase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12063971000146117	deficiëntie van gammacystathionase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12063981000146115	cystathioninurie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)