Systematized Nomenclature of Medicine, International Version

Last uploaded: January 31, 2024

Preferred Name	UDPglucose-4-epimerase deficiency
Synonyms	Galactosemia III
ID	http://purl.bioontology.org/ontology/SNMI/D6-50530
altLabel	Galactosemia III Uridine diphosphate galactose-4 epimerase deficiency UDPgalactose-4-epimerase deficiency Galactosaemia III GALE Galactose epimerase deficiency
Associated with	http://purl.bioontology.org/ontology/SNMI/M-27000 http://purl.bioontology.org/ontology/SNMI/F-61A00 http://purl.bioontology.org/ontology/SNMI/F-6D1B0
cui	C0751161
notation	D6-50530
prefLabel	UDPglucose-4-epimerase deficiency
SIC	271.1
SMX	(F-61A00) (M-27000) (F-6D1B0)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/SNMI/D6-50000

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D005693	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/8849004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D005693	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/8849004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/230350	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/606953	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/X40TR	RCD	CUI
http://purl.bioontology.org/ontology/LNC/LP56783-1	LOINC	CUI
http://purl.bioontology.org/ontology/LNC/LA12541-1	LOINC	CUI
http://purl.bioontology.org/ontology/LNC/MTHU021613	LOINC	CUI