Svensk definition
En grupp sjukdomstillstånd kännetecknade av ett autosomalt dominant ärftlighetsmönster med hög frekvens av spontana mutationer och ett flertal neurofibrom eller neurilemmom. Neurofibromatos 1 (allmän neurofibromatos) utgör ca 95% av alla fall; ett flertal andra undertyper (neurofibromatos 2, neurofibromatos 3 osv) har dock beskrivits.
Engelsk definition
A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Neurofibromatosis — Neurofibromatosis Syndrome — Neurofibromatosis Syndromes — Syndrome, Neurofibromatosis — Syndromes, Neurofibromatosis — Multiple Neurofibromas — Multiple Neurofibroma — Neurofibroma, Multiple — Neurofibromas, Multiple — Neurofibromatosis 3 — Neurofibromatosis 3s — Neurofibromatosis Type 3 — Neurofibromatosis Type 3s — Type 3, Neurofibromatosis