Neurofibroma
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurofibroma | |
| fr | Neurofibrome | |
| de | Neurofibrom | |
| es | Neurofibroma | |
| it | Neurofibroma | |
| nl | Neurofibroom | |
| pt | Neurofibroma | |
| pl | Nerwiakowłókniak | |
| cs | Neurofibrom | |
| uk | Нейрофіброма | |
| zh | 神经纤维瘤 | |
| tr | Nörofibrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D36.1 | NTBT | attributed | validated |
| ICD-11 | 2F3Y | NTBT | index | validated |
| MONDO | 0016755 | E | validated | |
| MeSH | D009455 | E | validated | |
| UMLS | C0027830 | E | validated | |
| GARD | 7191 | E | validated | |
| MedDRA | 10029267 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:252131Benign peripheral nerve sheath tumor
rare neurological diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
28 annotations · validated 2017-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001067 | Neurofibromas | |
| Frequent (79-30%) | ||
| HP:0012645 | Enlarged peripheral nerve | |
| HP:0007470 | Periarticular subcutaneous nodules | |
| HP:0009732 | Plexiform neurofibroma | |
| HP:0100698 | Subcutaneous neurofibromas | |
| Occasional (29-5%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0006751 | Paraspinal neurofibromas | |
| HP:0003406 | Peripheral nerve compression | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0009735 | Spinal neurofibromas | |
| HP:0006851 | Symmetric spinal nerve root neurofibromas | |
| Very rare (<4-1%) | ||
| HP:0012440 | Abnormal biliary tract morphology | |
| HP:0007524 | Atypical neurofibromatosis | |
| HP:0011801 | Enlargement of parotid gland | |
| HP:0012289 | Facial neoplasm | |
| HP:0002584 | Intestinal bleeding | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000256 | Macrocephaly | |
| HP:0005220 | Multiple intestinal neurofibromatosis | |
| HP:0100527 | Neoplasia of the pleura | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0100551 | Neoplasm of the trachea | |
| HP:0007576 | Palmar neurofibromas | |
| HP:0009593 | Peripheral schwannoma | |
| HP:0000403 | Recurrent otitis media | |
| HP:0100010 | Spinal meningioma | |
| Excluded (0%) | ||
| HP:0000995 | Melanocytic nevus | |
| HP:0010609 | Skin tags | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 15177315[PMID]_28647116[PMID]_28666606[PMID]_22654333[PMID]_17695403[PMID]_20154031[PMID]_21741514[PMID]_23336913[PMID]_20194331[PMID]_26237456[PMID]_25128077[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/252183
- This record as JSON: /data/d/252183.json