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Systematized Nomenclature of Medicine, International Version
Last uploaded:
August 28, 2024
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Id | http://purl.bioontology.org/ontology/SNMI/D6-50510
http://purl.bioontology.org/ontology/SNMI/D6-50510
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Preferred Name | Classical galactosemia |
Synonyms |
UTP-hexose-1-phosphate uridyltransferase deficiency
Transferase deficiency galactosemia
GALT
Classical galactosaemia
Transferase deficiency galactosaemia
Galactose-1-phosphate uridyltransferase deficiency
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
UTP-hexose-1-phosphate uridyltransferase deficiency
Transferase deficiency galactosemia
GALT
Classical galactosaemia
Transferase deficiency galactosaemia
Galactose-1-phosphate uridyltransferase deficiency
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prefLabel |
Classical galactosemia
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Associated with | |
notation |
D6-50510
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SIC |
271.1
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subClassOf | |
Semantic type UMLS property | |
SMX |
(F-61A00) (M-27000) (F-694D0)
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type | |
tui |
T047
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cui |
C0268151
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