Systematized Nomenclature of Medicine, International Version

Last uploaded: January 31, 2024

Preferred Name	Classical galactosemia
Synonyms	UTP-hexose-1-phosphate uridyltransferase deficiency
ID	http://purl.bioontology.org/ontology/SNMI/D6-50510
altLabel	UTP-hexose-1-phosphate uridyltransferase deficiency Transferase deficiency galactosemia GALT Classical galactosaemia Transferase deficiency galactosaemia Galactose-1-phosphate uridyltransferase deficiency
Associated with	http://purl.bioontology.org/ontology/SNMI/M-27000 http://purl.bioontology.org/ontology/SNMI/F-694D0 http://purl.bioontology.org/ontology/SNMI/F-61A00
cui	C0268151
notation	D6-50510
prefLabel	Classical galactosemia
SIC	271.1
SMX	(F-61A00) (M-27000) (F-694D0)
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/MESH/D005693	MESH	CUI
http://purl.bioontology.org/ontology/OMIM/230400	OMIM	CUI
http://purl.bioontology.org/ontology/LNC/LA21165-8	LOINC	CUI
http://purl.bioontology.org/ontology/SCTSPA/124354006	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012910	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/398664009	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/LP56781-5	LOINC	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/398664009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/1849-3608	CRISP	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124354006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/606999	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/C3110	RCD	CUI
http://purl.bioontology.org/ontology/LNC/MTHU021611	LOINC	CUI
http://purl.bioontology.org/ontology/LNC/LA21165-8	LOINC	LOOM
http://purl.bioontology.org/ontology/LNC/LP56781-5	LOINC	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021611	LOINC	LOOM