5C55.1

ICD-11 MMS 2026-01

Disorders of pyrimidine metabolism

Index terms

  • Disorders of pyrimidine metabolism
  • Beta-aminoisobutyrate-pyruvate transaminase deficiency
  • Beta-ureidopropionase deficiency
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  • 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

Exclusions from above levels

  • GB70.0 – Calculus of kidney
  • LD27.1 – Xeroderma pigmentosum
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
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  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Foundation children elsewhere

  • 3A03.0 – Hereditary orotic aciduria

Sibling codes

  • 5C55.0 – Disorders of purine metabolism
  • 5C55.2 – Disorders of nucleotide metabolism
  • 5C55.Y – Other specified inborn errors of purine, pyrimidine or nucleotide metabolism
  • 5C55.Z – Inborn errors of purine, pyrimidine or nucleotide metabolism, unspecified

Foundation entity

Disorders of pyrimidine metabolism – http://id.who.int/icd/entity/771608363

Part of: 5C55: Inborn errors of purine, pyrimidine or nucleotide metabolism › 05: Endocrine, nutritional or metabolic diseases