5C60.0

ICD-11 MMS 2026-01

Oculocerebrorenal syndrome

Description

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterised by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

Index terms

  • Oculocerebrorenal syndrome
  • Cerebro-oculorenal dystrophy
  • Lowe disease
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  • Lowe oculocerebrorenal syndrome
  • Lowe syndrome
  • Lowe-Terrey-Maclachlan syndrome
  • OCRL1 - [Oculocerebrorenal syndrome]
  • Oculocerebrorenal dystrophy
  • Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
  • renal-oculocerebrodystrophy
  • Glaucoma in Lowe syndrome

Exclusions from above levels

  • 5C50.3 – Disorders of tryptophan metabolism
  • 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

  • 5C60.1 – Cystinosis
  • 5C60.2 – Cystinuria
  • 5C60.Y – Other specified disorders of amino acid absorption or transport
  • 5C60.Z – Disorders of amino acid absorption or transport, unspecified

Foundation entity

Oculocerebrorenal syndrome – http://id.who.int/icd/entity/1392767390

Part of: 5C60: Disorders of amino acid absorption or transport › 05: Endocrine, nutritional or metabolic diseases