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5C55.1 Disorders of pyrimidine metabolism

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

code elsewhere

• Hereditary orotic aciduria  (3A03.0)
• Haemolytic anaemia due to pyrimidine 5' nucleotidase deficiency  (3A10.Y)

synonyms

• Disorders of pyrimidine metabolism
• Beta-aminoisobutyrate-pyruvate transaminase deficiency
• Beta-ureidopropionase deficiency
• Beta-alanine synthase deficiency
• Dihydroorotate dehydrogenase deficiency
• Dihydropyrimidinase deficiency
• Dihydropyrimidinuria
• Dihydrouracil amidohydrolase deficiency
• Dihydropyrimidine dehydrogenase deficiency
• Dihydrouracil dehydrogenase deficiency
• Familial pyrimidinaemia
• Thymidine kinase 2 deficiency
• Thymidine phosphorylase deficiency
• Uridine-5'-monophosphate hydrolase superactivity
• Hyper-beta-alaninaemia
• Beta-alanine-2-ketoglutarate transaminase deficiency

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