Overview
Familial spinal neurofibromatosis is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Spinal neurofibroma
Always present (100%)HP:0009735
Flat light-brown mark on skin
Frequent (30-79%)HP:0000957
Iris hamartomas
Frequent (30-79%)HP:0009737
Partial paralysis of legs
Frequent (30-79%)HP:0002385
Neurofibroma
Occasional (5-29%)HP:0001067
Plexiform neurofibroma
Occasional (5-29%)HP:0009732
Freckling
Excluded (<1%)HP:0001480
Lower limb muscle weakness
HP:0007340
Symmetric spinal nerve root neurofibromas
HP:0006851
Quick Facts
- SNOMED CT
- 1003465006
- UMLS CUI
- C1834235
- Fully Specified Name
- Familial spinal neurofibromatosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 9
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.