Preferred Label : Neurofibromatosis Type 1;
NCIt synonyms : Peripheral Neurofibromatosis; Neurofibromatosis 1;
NCIt related terms : Von Recklinghausen disease; NF1; Neurofibromatosis Type 1 Microdeletion Syndrome; Recklinghausen disease; Neurofibromatosis;
NCIt definition : The most common type of neurofibromatosis. It is characterized clinically by cutaneous
and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin
areas, are present from birth and found anywhere on the body surface. They can vary
markedly in size and color. The dark brown areas are called cafe-au-lait spots. The
multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas.
They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become
quite large, causing a major disfigurement, eroding bone, and compressing various
peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with
a gene locus on the proximal long arm of chromosome 17.;
Alternative definition : NCI-GLOSS: A rare genetic condition that causes brown spots and tumors on the skin,
freckling in skin areas not exposed to the sun, tumors on the nerves, and developmental
changes in the nervous system, muscles, bone, and skin.; NICHD: An autosomal dominant form of neurofibromatosis caused by mutation(s) in the
NF1 gene, encoding neurofibromin. The clinical features of this condition may include
smooth bordered areas of hyperpigmentation, known as cafe-au-lait spots, axillary
freckling, Lisch nodules, short stature, cutaneous and subcutaneous tumors (neurofibromas),
optic nerve gliomas, precocious puberty, and growth hormone excess.;
Codes from synonyms : CDR0000339366; CDR0000045096;
Origin ID : C3273;
UMLS CUI : C0027831;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
Validated automatic mappings to NTBT
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