Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Capillary hemangioma
Very frequent (80-99%)HP:0005306
Facial capillary hemangioma
Very frequent (80-99%)HP:0000996
Seizures
Very frequent (80-99%)HP:0001250
Abnormality of the cerebral blood vessels
Frequent (30-79%)HP:0100659
Arachnoid hemangiomatosis
Frequent (30-79%)HP:0012222
Behavioral changes
Frequent (30-79%)HP:0000708
Cerebral vascular events
Frequent (30-79%)HP:0001297
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Delayed language development
Frequent (30-79%)HP:0000750
Glaucoma
Frequent (30-79%)HP:0000501
Headache
Frequent (30-79%)HP:0002315
Increased reflexes
Frequent (30-79%)HP:0001347
Infantile spasms
Frequent (30-79%)HP:0012469
Lens luxation
Frequent (30-79%)HP:0012019
Mental deficiency
Frequent (30-79%)HP:0001249
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Optic atrophy
Frequent (30-79%)HP:0000648
Partial loss of field of vision
Frequent (30-79%)HP:0001123
Squint
Frequent (30-79%)HP:0000486
Abnormal deposits of calcium in the brain
Occasional (5-29%)HP:0002514
Abnormality of retina blood vessels
Occasional (5-29%)HP:0008046
Abnormality of the choroid
Occasional (5-29%)HP:0000610
Abnormality of vision
Occasional (5-29%)HP:0000504
Angle class 2 malocclusion
Occasional (5-29%)HP:0000689
ASD
Occasional (5-29%)HP:0000729
Blindness
Occasional (5-29%)HP:0000618
Blood clot in artery of lung
Occasional (5-29%)HP:0002204
Blood clot in vein
Occasional (5-29%)HP:0004936
Bone overgrowth
Occasional (5-29%)HP:0100774
Buphthalmos
Occasional (5-29%)HP:0000557
Quick Facts
- SNOMED CT
- 19886006
- UMLS CUI
- C0038505
- Fully Specified Name
- Sturge-Weber syndrome (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.