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Neurofibromatosis type 1

^ http://www.orpha.net/ORDO/Orphanet_636


Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

Synonyms: Von Recklinghausen disease, NF1

Term info

database cross reference
  • ICD-10:Q85.0 (NTBT (narrower term maps to a broader term))
  • MeSH:C538607 (E (exact mapping (the terms and the concepts are equivalent)))
  • MedDRA:10047712 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:613675 (BTNT (broader term maps to a narrower term))
  • ICD-10:Q85.0 (Inclusion term (The term is included under a ICD10 category and has not its own code))
  • MeSH:D009456 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:162200 (BTNT (broader term maps to a narrower term))
  • UMLS:C0027831 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:162210 (BTNT (broader term maps to a narrower term))
hasDbXref

ICD-10:Q85.0, OMIM:162200, OMIM:162210, OMIM:613675, MeSH:D009456, UMLS:C0027831, MedDRA:10047712, MeSH:C538607

notation

ORPHA:636

Term relations

Subclass of: