Overview
Sporadic Blau syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Arthritis
Very frequent (80-99%)HP:0001369
Intermittent generalized erythematous papular rash
Very frequent (80-99%)HP:0007432
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Uveitis
Frequent (30-79%)HP:0000554
Erythema nodosum
Occasional (5-29%)HP:0012219
High blood pressure
Occasional (5-29%)HP:0000822
Iritis
Occasional (5-29%)HP:0001101
Swelling or irritation of membrane around heart
Very rare (1-4%)HP:0001701
Abnormality of the cranial nerves
HP:0001291
Band keratopathy
HP:0000585
Contractures of the toes
HP:0005830
Cystoid macular edema
HP:0011505
Ear anomaly
HP:0000598
Eczema
HP:0000964
Glaucoma
HP:0000501
Joint swelling
HP:0001386
Lens opacities
HP:0000518
Nongranulomatous uveitis
HP:0007813
Open skin sore
HP:0200042
Synovitis
HP:0100769
Tendonitis
HP:0025230
Quick Facts
- SNOMED CT
- 726078000
- UMLS CUI
- C1836122
- Fully Specified Name
- Sporadic Blau syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.