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Neurofibroma

disorder
SNOMED 404029005CUI C0027830

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Neurofibroma" from the MEDLINE/PubMed database.

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A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials.
[object Object], [object Object], [object Object] et al. · Br J Dermatol · 2024
PMID: 37877514Meta-Analysis
Hybrid tumors with perineurioma components: a systematic review of the literature and illustrative case.
[object Object], [object Object], [object Object] et al. · Acta Neurochir (Wien) · 2023
PMID: 36396843Meta-AnalysisFull text (PMC)
Isolated, Nonsyndromic Mucocutaneous Plexiform Neurofibromas: A Systematic Review of the Clinicopathologic Features.
[object Object], [object Object], [object Object] et al. · Am J Dermatopathol · 2022
PMID: 36395447Meta-Analysis
Pacinian neuromas and neurofibromas of the hands and fingers: a systematic review.
[object Object], [object Object], [object Object] et al. · J Hand Surg Eur Vol · 2019
PMID: 31156019Meta-Analysis
Radiation-Induced Schwannomas and Neurofibromas: A Systematic Review.
[object Object], [object Object] · World Neurosurg · 2017
PMID: 28532923Meta-Analysis
Gene signature associated with benign neurofibroma transformation to malignant peripheral nerve sheath tumors.
[object Object], [object Object], [object Object] et al. · PLoS One · 2017
PMID: 28542306Meta-AnalysisFull text (PMC)
Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1.
[object Object], [object Object], [object Object] et al. · Sci Adv · 2024
PMID: 38691597RCTFull text (PMC)
Search all PubMed articles for Neurofibroma

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Neurofibroma
Always present (100%)HP:0001067
Enlarged peripheral nerve
Frequent (30-79%)HP:0012645
Periarticular subcutaneous nodules
Frequent (30-79%)HP:0007470
Plexiform neurofibroma
Frequent (30-79%)HP:0009732
Subcutaneous neurofibroma
Frequent (30-79%)HP:0100698
Abnormality of the cranial nerves
Occasional (5-29%)HP:0001291
Paraspinal neurofibroma
Occasional (5-29%)HP:0006751
Peripheral nerve compression
Occasional (5-29%)HP:0003406
Spinal neurofibroma
Occasional (5-29%)HP:0009735
Spinal stenosis
Occasional (5-29%)HP:0003416
Symmetric spinal nerve root neurofibromas
Occasional (5-29%)HP:0006851
Anomaly of the biliary tract
Very rare (1-4%)HP:0012440
Atypical neurofibromatosis
Very rare (1-4%)HP:0007524
Face tumour
Very rare (1-4%)HP:0012289
Hyperplasia of parotid gland
Very rare (1-4%)HP:0011801
Intestinal bleeding
Very rare (1-4%)HP:0002584
Kyphoscoliosis
Very rare (1-4%)HP:0002751
Large head
Very rare (1-4%)HP:0000256
Multiple intestinal neurofibromatosis
Very rare (1-4%)HP:0005220
Neoplasia of the pleura
Very rare (1-4%)HP:0100527
Palmar neurofibromas
Very rare (1-4%)HP:0007576
Peripheral schwannoma
Very rare (1-4%)HP:0009593
Recurrent middle ear infection
Very rare (1-4%)HP:0000403
Spinal meningioma
Very rare (1-4%)HP:0100010
Tracheal neoplasm
Very rare (1-4%)HP:0100551
Tumours of the breast
Very rare (1-4%)HP:0100013

Quick Facts

SNOMED CT
404029005
UMLS CUI
C0027830
Fully Specified Name
Neurofibroma (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
26
Clinical Trials
4
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.