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Pelizaeus-Merzbacher disease

^ http://www.orpha.net/ORDO/Orphanet_702


Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized 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 (see these terms).

Synonyms: PMD, Pelizaeus-Merzbacher brain sclerosis, Sudanophilic leukodystrophy, Paelizeus-Merzbacher type, Diffuse familial brain sclerosis

Term info

database cross reference
  • ICD-10:E75.2 (NTBT (narrower term maps to a broader term))
  • MeSH:D020371 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:213900 (BTNT (broader term maps to a narrower term))
  • MedDRA:10067610 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E75.2 (Index term)
  • OMIM:312080 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0205711 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

MedDRA:10067610, OMIM:213900, MeSH:D020371, UMLS:C0205711, OMIM:312080, ICD-10:E75.2

notation

ORPHA:702