Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Combined cystic and ground-glass pattern on pulmonary HRCT
Always present (100%)HP:0025395
Diffuse alveolar hemorrhage
Always present (100%)HP:0025420
Finger joint hypermobility
Always present (100%)HP:0006094
Increased mobility of hinge joints
Always present (100%)HP:0005620
Low number of red blood cells or hemoglobin
Always present (100%)HP:0001903
Metacarpophalangeal joint hyperextensibility
Always present (100%)HP:0006099
Nodular pattern on pulmonary HRCT
Always present (100%)HP:0025392
Skin hyperelasticity
Always present (100%)HP:0000974
Spontaneous collapsed lung
Always present (100%)HP:0002108
Type A aortic dissection
Always present (100%)HP:0004933
Abnormality of lingual frenum
Very frequent (80-99%)HP:0000190
Abnormality of the eyelashes
Very frequent (80-99%)HP:0000499
Absent/underdeveloped ear lobes
Very frequent (80-99%)HP:0009906
Aortic dissection
Very frequent (80-99%)HP:0002647
Bladder diverticulum
Very frequent (80-99%)HP:0000015
Bleeding tendency
Very frequent (80-99%)HP:0001892
Bruising susceptibility
Very frequent (80-99%)HP:0000978
Collapsed lung
Very frequent (80-99%)HP:0002107
Cryptorchidism
Very frequent (80-99%)HP:0000028
Death of digestive organ tissue due to poor blood supply
Very frequent (80-99%)HP:0005244
Decreased body height
Very frequent (80-99%)HP:0004322
Dental cavities
Very frequent (80-99%)HP:0000670
Dermal translucency
Very frequent (80-99%)HP:0010648
Dermatopathy
Very frequent (80-99%)HP:0000951
Disorder of face
Very frequent (80-99%)HP:0000271
Flat, discolored area of skin
Very frequent (80-99%)HP:0012733
High blood pressure
Very frequent (80-99%)HP:0000822
Hypotrophic eyebrow
Very frequent (80-99%)HP:0100840
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Related Conditions
Quick Facts
- SNOMED CT
- 17025000
- UMLS CUI
- C0268338
- Fully Specified Name
- Vascular Ehlers-Danlos 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.