SNOMED Clinical Terms - 5-Oxoprolinase deficiency - Terms | NCBO BioPortal

SNOMED Clinical Terms Summary

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Preferred Name	5-Oxoprolinase deficiency
Synonyms	Pyroglutamate hydrolase deficiency 5-Oxoprolinase deficiency (disorder)
ID	26132002
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/26132002
CONCEPTSTATUS	0
CTV3ID	Xa6b1
has_clinical_course	Courses
has_severity	Severities
isa	Disorder of the gamma-glutamyl cycle Inborn error of metabolism Enzymopathy Autosomal recessive hereditary disorder
ISPRIMITIVE	1
occurs_in	Congenital
Semantic_Type	Disease or Syndrome
SNOMEDID	D6-A3570
SYNONYM FN	5-Oxoprolinase deficiency (disorder)
SYNONYM SY	Pyroglutamate hydrolase deficiency
TUI	T047
UMLS_CUI	C0268525

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/MSH/C535322	Medical Subject Headings (MeSH)	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/Xa6b1	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0268525	skos:closeMatch	loom	05/21/13	View Notes
http://www.orphanet.org/rdfns#pat_id_10327	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/OMIM/260005	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0268525	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MSH/C535322	Medical Subject Headings (MeSH)	NLM UMLS (CUI)	CUI: C0268525	skos:closeMatch	loom	05/21/13	View Notes
http://www.orphanet.org/rdfns#pat_id_10327	Orphanet Ontology of Rare Diseases	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/Xa6b1	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://bioonto.de/mesh.owl#C535322	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/OMIM/260005	Online Mendelian Inheritance in Man	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes

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