6885006: Cystathionine gamma-lyase deficiency (disorder)

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:

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

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

4411351000241111 déficit en cystathionine gamma-lyase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.	Due to	True	Cystathionine gamma-lyase deficiency	Inferred relationship	Some	1

This concept is not in any reference sets