5C51.40 Galactose-1-phosphate uridyltransferase deficiency
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
synonyms
- Galactose-1-phosphate uridyltransferase deficiency
- Classical galactosaemia
- GALPUT deficiency - [Galactose-4-phosphate uridyltransferase] deficiency
- classic galactosaemia
- deficiency of hexose-1-phosphate uridylyltransferase
- deficiency of udpglucose-hexose-1-phosphate uridylyltransferase
- deficiency of galactose-1-phosphate uridylyltransferase
- galactose-1-phosphate uridyl transferase deficiency
- transferase deficiency galactosemia
- deficiency of uridyl transferase
- deficiency of utp-hexose-1-phosphate uridylyltransferase
- utp-hexose-1-phosphate uridyltransferase deficiency
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