Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Dystrophic nails
Occasional (5-29%)HP:0008404
Thickening of upper layer of skin
Occasional (5-29%)HP:0025092
Congenital bullous ichthyosiform erythroderma
HP:0007475
Epidermal hyperkeratosis
HP:0000962
Ichthyosiform abnormality of the skin
HP:0008064
Keratoderma
HP:0000982
Lichenification
HP:0100725
Orthokeratosis
HP:0040162
Scaling skin
HP:0040189
Related Conditions
Quick Facts
- SNOMED CT
- 763768001
- UMLS CUI
- C1838440
- Fully Specified Name
- Autosomal recessive exfoliative ichthyosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 9
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.