SNOMED Clinical Terms - Glutamate-cysteine ligase deficiency - Terms

Preferred Name	Glutamate-cysteine ligase deficiency
Synonyms	Gamma-glutamyl cysteine synthase deficiency Gamma-glutamylcysteine synthetase deficiency Glutamate-cysteine ligase deficiency (disorder) gamma-Glutamylcysteine synthetase deficiency Deficiency of glutamate-cysteine ligase
ID	36799008
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/36799008
cause_of	HNSHA due to gamma glutamyl cysteine synthetase deficiency
CONCEPTSTATUS	0
CTV3ID	Xa6b2
has_clinical_course	Courses
has_severity	Severities
isa	Disorder of the gamma-glutamyl cycle Specific enzyme deficiency Inborn error of metabolism Autosomal recessive hereditary disorder
ISPRIMITIVE	1
occurs_in	Congenital
same_as	Deficiency of glutamate-cysteine ligase
Semantic_Type	Disease or Syndrome
SNOMEDID	D6-A3550
SYNONYM FN	Glutamate-cysteine ligase deficiency (disorder)
SYNONYM IS	gamma-Glutamylcysteine synthetase deficiency
SYNONYM SY	Gamma-glutamyl cysteine synthase deficiency Gamma-glutamylcysteine synthetase deficiency Deficiency of glutamate-cysteine ligase
TUI	T047
UMLS_CUI	C0268523

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/RCD/Xa6b2	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0268523	skos:closeMatch	loom	05/21/13	View Notes
http://www.orphanet.org/rdfns#pat_id_10329	Orphanet Ontology of Rare Diseases	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://www.orphanet.org/rdfns#pat_id_10329	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/Xa6b2	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes

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