5C52.10

ICD-11 MMS 2026-01

Disorders of cholesterol synthesis

Index terms

  • Disorders of cholesterol synthesis
  • Mevalonate kinase deficiency
  • Mevalonic aciduria
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  • Smith-Lemli-Opitz syndrome
  • 7-dehydrocholesterol reductase deficiency
  • Desmosterolosis
  • 3-beta-hydroxysterol D-24 reductase deficiency
  • Desmosterol reductase deficiency
  • Lathosterolosis
  • 3-beta-hydroxysterol delta-5-desaturase deficiency
  • Sterol C5-desaturase deficiency

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 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

  • 5C52.11 – Bile acid synthesis defect with cholestasis
  • 5C52.1Y – Other specified inborn errors of sterol metabolism
  • 5C52.1Z – Inborn errors of sterol metabolism, unspecified

Foundation entity

Disorders of cholesterol synthesis – http://id.who.int/icd/entity/210624950

Part of: 5C52.1: Inborn errors of sterol metabolism › 5C52: Inborn errors of lipid metabolism › 05: Endocrine, nutritional or metabolic diseases