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Xeroderma pigmentosum, group C

disorder
SNOMED 25784009CUI C2752147

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.

Solar keratosis
Always present (100%)HP:0025127
Spider veins
Always present (100%)HP:0001009
Basal cell nevus
Frequent (30-79%)HP:0002671
Cutaneous melanoma
Frequent (30-79%)HP:0012056
Freckling
Frequent (30-79%)HP:0001480
Skin degeneration
Frequent (30-79%)HP:0004334
Squamous skin carcinoma
Frequent (30-79%)HP:0006739
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
Hypopigmentation of the skin
HP:0001010
Photophobia
HP:0000613
Pink eye
HP:0000509
Poikiloderma
HP:0001029

Quick Facts

SNOMED CT
25784009
UMLS CUI
C2752147
Fully Specified Name
Xeroderma pigmentosum, group C (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
16
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.