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Descriptor English: | Neurofibromatosis 1 | ||||||
Descriptor Spanish: |
Neurofibromatosis 1
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Descriptor Portuguese: | Neurofibromatose 1 | ||||||
Descriptor French: | Neurofibromatose de type 1 | ||||||
Entry term(s): |
Gliofibromatose Maladie de Recklinghausen Maladie de von Recklinghausen NF-1 (NeuroFibromatose de type 1) NF1 (NeuroFibromatose de type 1) Neurofibromatose de Recklinghausen Neurofibromatose de type I Neurofibromatose de type périphérique Neurofibromatose périphérique Neurogliomatose Polyfibromatose neurocutanée pigmentaire Sténose pulmonaire avec taches café-au-lait Syndrome de Watson Taches café-au-lait avec sténose pulmonaire |
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Tree number(s): |
C04.557.580.600.580.590.650 C04.700.631.650 C10.562.600.500 C10.574.500.549.400 C10.668.829.675 C16.320.400.560.400 C16.320.700.633.650 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009456 | ||||||
Scope note: | An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). |
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Annotation: | do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant |
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Allowable Qualifiers: |
BL sang CF liquide cérébrospinal CI induit chimiquement CL classification CO complications DG imagerie diagnostique DH diétothérapie DI diagnostic DT traitement médicamenteux EC économie EH ethnologie EM embryologie EN enzymologie EP épidémiologie ET étiologie GE génétique HI histoire IM immunologie ME métabolisme MI microbiologie MO mortalité NU soins infirmiers PA anatomopathologie PC prévention et contrôle PP physiopathologie PS parasitologie PX psychologie RH rééducation et réadaptation RT radiothérapie SU chirurgie TH thérapie UR urine VE médecine vétérinaire VI virologie |
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Related: |
Gènes nf1
MeSH Neurofibromine-1 MeSH Syndrome LEOPARD MeSH Syndrome de Noonan MeSH | ||||||
DeCS ID: | 30295 | ||||||
Unique ID: | D009456 | ||||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
Date Established: | 1992/01/01 | ||||||
Date of Entry: | 1999/01/01 | ||||||
Revision Date: | 2018/06/29 |
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MALADIES
Tumeurs [C04]Tumeurs -
MALADIES
Tumeurs [C04]Tumeurs
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Neurofibromatose de type 1
- Preferred
Syndrome de Watson
- Related but not broader or narrower
Concept UI |
M0014710 |
Preferred term | Neurofibromatose de type 1 |
Entry term(s) |
Gliofibromatose Maladie de Recklinghausen Maladie de von Recklinghausen NF-1 (NeuroFibromatose de type 1) NF1 (NeuroFibromatose de type 1) Neurofibromatose de Recklinghausen Neurofibromatose de type I Neurofibromatose de type périphérique Neurofibromatose périphérique Neurogliomatose Polyfibromatose neurocutanée pigmentaire |
Concept UI |
M0374985 |
Preferred term | Syndrome de Watson |
Entry term(s) |
Sténose pulmonaire avec taches café-au-lait Taches café-au-lait avec sténose pulmonaire |
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