Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Glioma
Always present (100%)HP:0009733
Abnormality of the nervous system
Very frequent (80-99%)HP:0000707
Astrocytoma
Very frequent (80-99%)HP:0009592
Delayed puberty
Very frequent (80-99%)HP:0000823
Few cafe-au-lait spots
Very frequent (80-99%)HP:0007429
Flat, discolored area of skin
Very frequent (80-99%)HP:0012733
Generalised hyperpigmentation
Very frequent (80-99%)HP:0007440
Iris hamartomas
Very frequent (80-99%)HP:0009737
Lipomatosis
Very frequent (80-99%)HP:0001012
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Multiple cafe-au-lait spots
Very frequent (80-99%)HP:0007565
Multiple, subcutaneous nodules
Very frequent (80-99%)HP:0001482
Noncancerous growth of membranes covering brain
Very frequent (80-99%)HP:0002858
Noncancerous mole
Very frequent (80-99%)HP:0000995
Plexiform neurofibroma
Very frequent (80-99%)HP:0009732
Skin cancer (non-melanoma)
Very frequent (80-99%)HP:0008069
Specific learning disability
Very frequent (80-99%)HP:0001328
Abnormal eye
Frequent (30-79%)HP:0000478
Abnormal skeletal development
Frequent (30-79%)HP:0002652
Abnormal vocalization
Frequent (30-79%)HP:0002167
Abnormality of vision
Frequent (30-79%)HP:0000504
Accelerated linear growth
Frequent (30-79%)HP:0000098
Anterior bulging of the globe of eye
Frequent (30-79%)HP:0000520
Ataxia
Frequent (30-79%)HP:0001251
Axillary freckling
Frequent (30-79%)HP:0000997
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Cryptorchidism
Frequent (30-79%)HP:0000028
Deafness
Frequent (30-79%)HP:0000365
Freckling
Frequent (30-79%)HP:0001480
Frequent fractures
Frequent (30-79%)HP:0002757
Related Conditions
Axillary freckling due to neurofibromatosis(child)
Multiple café-au-lait macules due to neurofibromatosis(child)
Multiple neurofibromas in neurofibromatosis(child)
Elephantiasis neurofibromatosa(child)
Neurofibromatosis Noonan syndrome(child)
17q11 deletion syndrome(child)
Segmental neurofibromatosis type 1(child)
Familial spinal neurofibromatosis(child)
MNF1 - mosaic neurofibromatosis type 1(child)
Neurofibromatosis syndrome(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of nervous system(parent)
Quick Facts
- SNOMED CT
- 92824003
- UMLS CUI
- C0027831
- Fully Specified Name
- Neurofibromatosis type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Known Treatments
- 2
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.