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Xeroderma pigmentosum, group E

disorder
SNOMED 56048001CUI C1848411

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Basal cell nevus
HP:0002671
Conjunctivitis
HP:0000509
Corneal inflammation
HP:0000491
Cutaneous photosensitivity
HP:0000992
Defective DNA repair after ultraviolet radiation damage
HP:0003079
Everted eyelid
HP:0000656
Eyelid turned in
HP:0000621
Melanoma
HP:0002861
Photophobia
HP:0000613
Poikiloderma
HP:0001029
Skin degeneration
HP:0004334
Spider veins
HP:0001009
Squamous skin carcinoma
HP:0006739

Quick Facts

SNOMED CT
56048001
UMLS CUI
C1848411
Fully Specified Name
Xeroderma pigmentosum, group E (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
13
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.