neurofibromatosis 1

Preferred Label : neurofibromatosis 1;

MeSH definition : 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).;

MeSH synonym : neurofibromatoses, peripheral; neurofibromatosis, peripheral, nf 1; nf1 (neurofibromatosis 1); neurofibromatosis, type i; recklinghausen disease of nerve; recklinghausen disease, nerve; neurofibromatosis type 1; neurofibromatosis type i; von recklinghausen's disease; type i, neurofibromatosis; type 1, neurofibromatosis; neurofibromatosis, type 1; type 1 neurofibromatosis; neurofibromatoses, type i; type i neurofibromatoses; neurofibromatosis, peripheral, nf1; recklinghausens disease of nerve; recklinghausen's disease of nerve; von recklinghausen disease; von recklinghausens disease; peripheral neurofibromatosis; neurofibromatosis, peripheral; peripheral neurofibromatoses; neurofibromatosis i; neurofibromatosis, peripheral type; molluscum fibrosum;

CISMeF synonym : i, neurofibromatosis type;

Related MeSH term : watson syndrome; Syndrome, Watson; Pulmonic Stenosis with Cafe-au-Lait Spots; Pulmonic Stenosis with Cafe au Lait Spots; Cafe-au-Lait Spots with Pulmonic Stenosis; Cafe au Lait Spots with Pulmonic Stenosis;

MeSH annotation : do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant;

Wikipedia link : https://en.wikipedia.org/wiki/Neurofibromatosis type I;

Details

Origin ID

D009456;

UMLS CUI

C0027831;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Café-au-lait macules with pulmonary stenosis (disorder) [SNOMED CT concept]
- Encephalitis lethargica (disorder) [SNOMED CT concept]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Hereditary coproporphyria (disorder) [SNOMED CT concept]
- Juvenile Hyaline Fibromatosis [NCIt concept]
- NF1 Gene [NCIt concept]
- NF1 wt Allele [NCIt concept]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis (nonmalignant) [ICD-10 Sub-category]
- Neurofibromatosis (nonmalignant) [ICD-10 Sub-category (who)]
- Neurofibromatosis 1 and 2 (NF1 and NF2) [NCIt concept]
- Neurofibromatosis II [PASCAL descriptor]
- Neurofibromatosis, NOS [ICD-11 Extension code]
- Neurofibromatosis, type II [OMIM Phenotype]
- Neurofibromin [NCIt concept]
- Neurofibromin 1 [OMIM gene]
- Von Gierke's disease [MedDRA LLT]
- Watson syndrome [PASCAL descriptor]
- Watson syndrome [ICD-11 More detail]
- Watson syndrome [OMIM Phenotype]
- hereditary coproporphyria [SNOMED Notion]
- neoplasm nervous system unspecified [ICPC-2 Rubric]
- neurofibromatosis 1 [DO Concept]
- neurofibromin 1 [HGNC gene]
- platelet disorders [MedlinePlus Topic]
- von Willebrand Disease [NCIt concept]
- von Willebrand disorder (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Neurofibroma (disorder) [SNOMED CT concept]
- Neurofibromas [HPO term]
- Neurofibromatoses [ICD-11 Subcategory]
- Neurofibromatosis [NCIt concept]
- Neurofibromatosis [PASCAL descriptor]
- Neurofibromatosis [MedDRA Preferred Term]
- Neurofibromatosis [ORDO Disease]
- Neurofibromatosis (morphologic abnormality) [SNOMED CT concept]
- Neurofibromatosis NOS [ICD-9 code]
- Neurofibromatosis Type 1 [NCIt concept]
- Neurofibromatosis syndrome (disorder) [SNOMED CT concept]
- Neurofibromatosis type 1 [ICD-11 Sub-sub category]
- Neurofibromatosis type 1 [ORDO Disease]
- Neurofibromatosis type 1 (disorder) [SNOMED CT concept]
- Neurofibromatosis, NOS [ICD-O code]
- Neurofibromatosis, type 1 (von Recklinghausen's disease) [MedDRA LLT]
- Neurofibromatosis, type I [OMIM Phenotype]
- Recklinghausen's neurofibromatosis [PASCAL descriptor]
- Von Recklinghausen's disease (of nerve) [MedDRA LLT]
- neurofibromatosis [DO Concept]
- neurofibromatosis [Radlex concept]
- neurofibromatosis [Disease (Nov.)]
- neurofibromatosis [MedlinePlus Topic]
- neurofibromatosis type 1 [Disease (Nov.)]
- neurofibromatosis type 1 [Radlex concept]
- neurofibromatosis, nos [SNOMED Notion]
- neurofibromatosis, type 1 [SNOMED Notion]
- neurofibromin 1 [ORDO Gene]
DO Cross reference
- neurofibromatosis 1 [DO Concept]
False automatic mappings
- Watson syndrome [ORDO Disease]
Manual BTNT mappings - CISMeF
- 17q11 microdeletion syndrome [ORDO Disease]
- Familial segmental neurofibromatosis [ORDO Disease]
- Familial spinal neurofibromatosis [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Catecholamine-producing tumor [ORDO Disease]
- Eyebrow/eyelashes pigmentation anomaly [ORDO Disease]
- Eyelashes hypertrophy [ORDO Disease]
- Genetic hyperpigmentation of the skin [ORDO Disease]
- Hyperpigmentation of the skin [ORDO Disease]
- Inherited cancer-predisposing syndrome [ORDO Disease]
- Neurocutaneous syndrome with epilepsy [ORDO Disease]
- Neurogenic palpebral tumor [ORDO Disease]
- Phakomatosis with eye involvement [ORDO Disease]
- Rare cause of hypertension [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Rare genetic cause of hypertension [ORDO Disease]
- Rare nervous system tumor [ORDO Disease]
- Rare skin tumor or hamartoma [ORDO Disease]
- Rare syndrome with cardiac malformations [ORDO Disease]
- Syndrome associated with Pierre Robin syndrome [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
MedlinePlus topic(s)
- neurofibromatosis [MedlinePlus Topic]
ORDO relation(s)
- Neurofibromatosis type 1 [ORDO Disease]
- Neurofibromatosis-Noonan syndrome [ORDO Disease]
Record concept(s)
- neurofibromatosis 1 [MeSH concept]
- watson syndrome [MeSH concept]
See also
- LEOPARD syndrome [MeSH Descriptor]
- genes, neurofibromatosis 1 [MeSH Descriptor]
- neurofibromin 1 [MeSH Descriptor]
- noonan syndrome [MeSH Descriptor]
See also inter- (CISMeF)
- pulmonic stenosis with cafe-au-lait spots [Disease (Nov.)]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Neurofibromatosis Type 1 [NCIt concept]
- Neurofibromatosis type 1 [ORDO Disease]
- Neurofibromatosis type 1 [ICD-11 Sub-sub category]
- Neurofibromatosis type 1 (disorder) [SNOMED CT concept]
- Neurofibromatosis, type 1 (von Recklinghausen's disease) [MedDRA LLT]
- Neurofibromatosis, type 1 [von recklinghausen's disease] [ICD-9 code]
- Neurofibromatosis, type I [OMIM Phenotype]
- Von Recklinghausen's disease (of nerve) [MedDRA LLT]
- neurofibromatosis 1 [DO Concept]
- neurofibromatosis type 1 [Radlex concept]
- neurofibromatosis type 1 [Disease (Nov.)]
- neurofibromatosis, type 1 [SNOMED Notion]

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