8A44.0 Pelizaeus-Merzbacher disease

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2025-01

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.

code elsewhere

• Pelizaeus-Merzbacher-like disease  (LD90.2)

synonyms

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

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