Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Congenital bullous ichthyosiform erythroderma
Very frequent (80-99%)HP:0007475
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Erythroderma
Very frequent (80-99%)HP:0001019
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
No appetite
Very frequent (80-99%)HP:0004396
Skin bullae
Very frequent (80-99%)HP:0008066
Weight loss
Very frequent (80-99%)HP:0001824
Cutaneous photosensitivity
Frequent (30-79%)HP:0000992
Conjunctival hamartoma
Occasional (5-29%)HP:0100780
Keratoderma
Occasional (5-29%)HP:0000982
Open skin sore
Occasional (5-29%)HP:0200042
Palmoplantar keratosis
HP:0000972
Scaling skin
HP:0040189
Thickening of upper layer of skin
HP:0025092
Quick Facts
- SNOMED CT
- 254167000
- UMLS CUI
- C0079153
- Fully Specified Name
- Bullous ichthyosiform erythroderma (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
- Known Treatments
- 2
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.