Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Anti-CASPR2
Frequent (30-79%)HP:5000005
Absent tendon reflexes
HP:0001284
Acral ulceration
HP:0006121
Acroosteolysis of feet
HP:0001842
Autoamputation of digits
HP:0007460
Central hypotonia
HP:0001252
Decreased nerve conduction velocity
HP:0000762
Decreased number of large and small myelinated fibres
HP:0003380
Decreased sensory NCV
HP:0003448
Decreased taste sensation
HP:0000224
Episodic hyperhidrosis
HP:0001069
Feeding difficulties in infancy
HP:0008872
Gastro-esophageal reflux
HP:0002020
Generalised decreased muscle tone
HP:0001290
Hyporeflexia
HP:0001265
Laboratory abnormality
HP:0001939
Osteolytic defects of the phalanges of the hand
HP:0009771
Painless fractures due to injury
HP:0002661
Paronychia
HP:0001818
Peripheral neuropathy
HP:0009830
Reduced corneal reflex
HP:0008000
Sweating dysfunction
HP:0000970
Quick Facts
- SNOMED CT
- 111496009
- UMLS CUI
- C0039144
- Fully Specified Name
- Syringomyelia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.