Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Juvenile posterior subcapsular lenticular opacities
Very frequent (80-99%)HP:0007935
Pinched nerve
Very frequent (80-99%)HP:0030430
Vestibular Schwann cell tumor
Very frequent (80-99%)HP:0009588
Bilateral acoustic neuromas
Frequent (30-79%)HP:0009589
Cataract
Frequent (30-79%)HP:0000518
Deafness
Frequent (30-79%)HP:0000365
Decreased visual acuity
Frequent (30-79%)HP:0007663
Eye disease
Frequent (30-79%)HP:0000478
Flat light-brown mark on skin
Frequent (30-79%)HP:0000957
Hyperesthesia
Frequent (30-79%)HP:0100963
Intracranial meningioma
Frequent (30-79%)HP:0100009
Myelopathy
Frequent (30-79%)HP:0002196
Noncancerous growth of membranes covering brain
Frequent (30-79%)HP:0002858
Peripheral schwannoma
Frequent (30-79%)HP:0009593
Posterior subcapsular cataracts
Frequent (30-79%)HP:0007787
Sensorineural deafness
Frequent (30-79%)HP:0000407
Spinal tumours
Frequent (30-79%)HP:0010302
Unilateral vestibular schwannoma
Frequent (30-79%)HP:0009590
Ataxia
Occasional (5-29%)HP:0001251
Blindness
Occasional (5-29%)HP:0000618
Brain stem compression
Occasional (5-29%)HP:0002512
Cerebellar abnormality
Occasional (5-29%)HP:0001317
Cortical cataract
Occasional (5-29%)HP:0100019
Cranial nerve paralysis
Occasional (5-29%)HP:0006824
Deglutition disorder
Occasional (5-29%)HP:0002015
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Double vision
Occasional (5-29%)HP:0000651
Ependymoma
Occasional (5-29%)HP:0002888
Facial palsy
Occasional (5-29%)HP:0010628
Hemiparesis
Occasional (5-29%)HP:0001269
Quick Facts
- SNOMED CT
- 92503002
- UMLS CUI
- C0027832
- Fully Specified Name
- Neurofibromatosis type 2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.