Library / English Dictionary

NEUROFIBROMATOSIS

Pronunciation (US):

(GB):

 I. (noun) 

Sense 1

Meaning:

Autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities

Synonyms:

neurofibromatosis; von Recklinghausen's disease

Classified under:

Nouns denoting stable states of affairs

Hypernyms ("neurofibromatosis" is a kind of...):

monogenic disease; monogenic disorder (an inherited disease controlled by a single pair of genes)

autosomal dominant disease; autosomal dominant disorder (a disease caused by a dominant mutant gene on an autosome)

Credits

 Context examples: 

It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome.

(Cafe Au Lait Patch, NCI Thesaurus)

This condition can be seen in association with neurofibromatosis 1.

(Optic Nerve Glioma, NCI Thesaurus)

Mutations in this allele are a factor in the occurrence of neurofibromatosis type II, schwannomatosis and somatic meningioma.

(NF2 wt Allele, NCI Thesaurus)

Examples of overgrowth syndromes include neurofibromatosis, Sotos syndrome, Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Weaver syndrome, Proteus syndrome, Sturge-Weber syndrome, and fragile X syndrome.

(Overgrowth syndrome, NCI Dictionary)

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)

(Neurofibromatosis, NLM, Medical Subject Headings)

Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body.

(Iris Neoplasm, NLM, Medical Subject Headings)

Patients with neurofibromatosis type 1 present with multiple masses.

(Neurofibroma, NCI Thesaurus)

If the tumors affect both hearing nerves, it is often because of a genetic disorder called neurofibromatosis.

(Acoustic Neuroma, NIH: National Institute of Deafness and Communication Disorders)

A condition causing exacerbation of the clinical features of neurofibromatosis.

(Aggravated Neurofibromatosis, NCI Thesaurus)

Neurofibromatosis is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology.

(NCI CTEP SDC Neurofibromatosis Sub-Category Terminology, NCI Thesaurus)