5C55.2

ICD-11 MMS 2026-01

Disorders of nucleotide metabolism

Index terms

  • Disorders of nucleotide metabolism
  • Aicardi-Goutières syndrome
  • Encephalopathy with basal ganglia calcification
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  • Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
  • Aicardi-Goutières syndrome type 1
  • DNase III deficiency
  • TREX deficiency
  • Aicardi-Goutières syndrome type 2
  • RNASEH2B deficiency
  • Aicardi-Goutières syndrome type 3
  • RNASEH2C deficiency
  • Aicardi-Goutières syndrome type 4
  • RNASEH2A deficiency
  • Aicardi-Goutières syndrome type 5
  • SAMHD1deficiency
  • Cystic leukoencephalopathy without megalencephaly
  • RNASET2-deficient cystic leukoencephalopathy

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

Sibling codes

  • 5C55.0 – Disorders of purine metabolism
  • 5C55.1 – Disorders of pyrimidine 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 nucleotide metabolism – http://id.who.int/icd/entity/1432796178

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