8A44.0

ICD-11 MMS 2026-01

Pelizaeus-Merzbacher disease

Description

Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterised by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.

Index terms

  • Pelizaeus-Merzbacher disease
  • Pelizaeus-Merzbacher disease late onset form
  • Pelizaeus-Merzbacher disease, connatal form
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  • Pelizaeus-Merzbacher disease, classic form
  • Pelizaeus-Merzbacher disease, transitional form
  • Pelizaeus-Merzbacher disease in female carriers
  • Null syndrome

Exclusions from above levels

  • 05 – Endocrine, nutritional or metabolic diseases
  • 18 – Complications of pregnancy, childbirth and the puerperium
  • 19 – Certain conditions originating in the perinatal period
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  • 22 – Injury, poisoning or certain other consequences of external causes

Foundation children elsewhere

  • LD90.2 – Pelizaeus-Merzbacher-like disease

Sibling codes

  • 8A44.1 – Adrenoleukodystrophy
  • 8A44.2 – Alexander disease
  • 8A44.3 – Certain specified leukodystrophies
  • 8A44.4 – Krabbe disease
  • 8A44.Z – Leukodystrophies, unspecified

Foundation entity

Pelizaeus-Merzbacher disease – http://id.who.int/icd/entity/1313582105

Part of: 8A44: Leukodystrophies › 08: Diseases of the nervous system