neurofibromatoses

Preferred Label : neurofibromatoses;

MeSH 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);

MeSH synonym : multiple neurofibroma; neurofibromatosis syndrome; neurofibromas, multiple; neurofibromatosis syndromes; syndrome, neurofibromatosis; syndromes, neurofibromatosis; multiple neurofibromas; neurofibroma, multiple; neurofibromatosis;

MeSH hyponym : neurofibromatosis 3; Neurofibromatosis 3s; Neurofibromatosis Type 3; Neurofibromatosis Type 3s; Type 3, Neurofibromatosis;

MeSH annotation : multiple neurofibromas; specifics are available;

Wikipedia link : https://en.wikipedia.org/wiki/Neurofibromatoses;

Details

Origin ID

D017253;

UMLS CUI

C0162678;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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)
- NCI CTEP SDC Neurofibromatosis Sub-Category Terminology [NCIt concept]
- NF1 wt Allele [NCIt concept]
- Neurofibromatosis [ICD-9 code]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis II [PASCAL descriptor]
- Neurofibromatosis type 3 (disorder) [Inactive SNOMED CT concept]
- Norfolk Island [NCIt concept]
- Schwannomatosis [NCIt concept]
- neurofibromatosis syndrome [SNOMED Notion]
- neurofibromin 1 [HGNC gene]
Currated CISMeF NLP mapping
- Neurofibroma (disorder) [SNOMED CT concept]
- Neurofibromas [HPO term]
- Neurofibromatoses [ICD-11 Subcategory]
- Neurofibromatosis [PASCAL descriptor]
- Neurofibromatosis [MedDRA Preferred Term]
- Neurofibromatosis [NCIt concept]
- Neurofibromatosis [ORDO Disease]
- Neurofibromatosis (morphologic abnormality) [SNOMED CT concept]
- Neurofibromatosis Type 1 [NCIt concept]
- Neurofibromatosis syndrome (disorder) [SNOMED CT concept]
- Neurofibromatosis, NOS [ICD-O code]
- neurofibromatosis [DO Concept]
- neurofibromatosis [Disease (Nov.)]
- neurofibromatosis [MedlinePlus Topic]
- neurofibromatosis [Radlex concept]
- neurofibromatosis, nos [SNOMED Notion]
- neurofibromin 1 [ORDO Gene]
DO Cross reference
- neurofibromatosis [DO Concept]
HPO term
- Neurofibromas [HPO term]
Manual BTNT mappings - CISMeF
- Neurofibromatosis-Noonan syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Inherited cancer-predisposing syndrome [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Rare hereditary disease with peripheral neuropathy [ORDO Disease]
- Rare nervous system tumor [ORDO Disease]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
MedlinePlus topic(s)
- neurofibromatosis [MedlinePlus Topic]
ORDO relation(s)
- Neurofibromatosis [ORDO Disease]
Record concept(s)
- neurofibromatoses [MeSH concept]
- neurofibromatosis 3 [MeSH concept]
Related MeSH Supplementary Concept(s)
- NF1 microdeletion syndrome [MeSH Supplementary Concept]
- NF1 microduplication syndrome [MeSH Supplementary Concept]
- Neurofibromatosis-Noonan syndrome [MeSH Supplementary Concept]
- Neurofibromatosis-Pheochromocytoma-Duodenal carcinoid syndrome [MeSH Supplementary Concept]
- neurofibromatosis type 5 [MeSH Supplementary Concept]
- neurofibromatosis, familial intestinal [MeSH Supplementary Concept]
- neurofibromatosis, familial spinal [MeSH Supplementary Concept]
- neurofibromatosis, type 3, mixed central and peripheral [MeSH Supplementary Concept]
- neurofibromatosis, type 4, of riccardi [MeSH Supplementary Concept]
- schwannomatosis [MeSH Supplementary Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Neurofibromas [HPO term]
- Neurofibromatosis [ORDO Disease]
- Neurofibromatosis [MedDRA Preferred Term]
- Neurofibromatosis [ICD-9 code]
- Neurofibromatosis [PASCAL descriptor]
- Neurofibromatosis [NCIt concept]
- Neurofibromatosis (morphologic abnormality) [SNOMED CT concept]
- Neurofibromatosis syndrome (disorder) [SNOMED CT concept]
- Neurofibromatosis, NOS [ICD-O code]
- Neurofibromatosis, unspecified [MedDRA LLT]
- Neurofibromatosis, unspecified [ICD-9 code]
- neurofibromatosis [MedlinePlus Topic]
- neurofibromatosis [DO Concept]
- neurofibromatosis [Radlex concept]
- neurofibromatosis [Disease (Nov.)]
- neurofibromatosis syndrome [SNOMED Notion]
- neurofibromatosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Full schwannomatosis [ORDO Disease]
- Neurofibromatosis type 3 [ICD-11 Sub-sub category]
- Schwannomatosis 1 [OMIM Phenotype]

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