Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aphthous ulcer
Always present (100%)HP:0032154
Elevated C-reactive protein level
Always present (100%)HP:0011227
Uveitis
Always present (100%)HP:0000554
Dysesthesia
Very frequent (80-99%)HP:0012534
Erythema
Very frequent (80-99%)HP:0010783
Hives
Very frequent (80-99%)HP:0001025
Joint inflammation
Very frequent (80-99%)HP:0001369
Muscle pain
Very frequent (80-99%)HP:0003326
Pyrexia
Very frequent (80-99%)HP:0001945
Skin itching
Very frequent (80-99%)HP:0000989
Sweating
Very frequent (80-99%)HP:0000975
Tiredness
Very frequent (80-99%)HP:0012378
Headache
Frequent (30-79%)HP:0002315
Nausea and vomiting
Frequent (30-79%)HP:0002017
Abdominal discomfort
Occasional (5-29%)HP:0002027
Arthralgias
Occasional (5-29%)HP:0002829
Dehydration
Occasional (5-29%)HP:0001944
Extreme thirst
Occasional (5-29%)HP:0001959
Pink eye
Occasional (5-29%)HP:0000509
Sensorineural deafness
Occasional (5-29%)HP:0000407
Renal amyloidosis
Very rare (1-4%)HP:0001917
Chills
HP:0025143
Cold urticaria
HP:0410135
Hearing impairment
Excluded (<1%)HP:0000365
Increased total leukocyte count
HP:0001974
Intermittent fever
HP:0001954
Skin rash
HP:0000988
Quick Facts
- SNOMED CT
- 238687000
- UMLS CUI
- C0343068
- Fully Specified Name
- Familial cold urticaria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.