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Nasu-Hakola disease

^ http://www.orpha.net/ORDO/Orphanet_2770


Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

Synonyms: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLO-SL, PLOSL, NHD

Term info

database cross reference
  • OMIM:221770 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E75.2 (Attributed)
  • ICD-10:E75.2 (NTBT (narrower term maps to a broader term))
  • MeSH:C536329 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C1857316 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

OMIM:221770, UMLS:C1857316, MeSH:C536329, ICD-10:E75.2

notation

ORPHA:2770