Xeroderma pigmentosum, group F

disorder

SNOMED 42530008CUI C0268140

Overview

By MedlinePlus, National Library of Medicine

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

Signs & Symptoms

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

Erythema

Always present (100%)HP:0010783

Freckling

Always present (100%)HP:0001480

Basal cell carcinoma

Frequent (30-79%)HP:0002671

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Aplasia/Hypoplasia involving the central nervous system

Occasional (5-29%)HP:0002977

Ataxia

Occasional (5-29%)HP:0001251

Brain wasting

Occasional (5-29%)HP:0012444

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Deafness

Occasional (5-29%)HP:0000365

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Enophthalmos

Occasional (5-29%)HP:0000490

Flexion contractures

Occasional (5-29%)HP:0001371

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Keratoacanthoma

Occasional (5-29%)HP:0031525

Morphological abnormality of the CNS

Occasional (5-29%)HP:0002011

Neoplasm of the skin

Occasional (5-29%)HP:0008069

Nonprogressive mental retardation

Occasional (5-29%)HP:0001249

Progressive dementia

Occasional (5-29%)HP:0000726

Squamous cell cancer

Occasional (5-29%)HP:0002860

Tremor

Occasional (5-29%)HP:0001337

Weight less than 3rd percentile

Occasional (5-29%)HP:0004325

Cutaneous photosensitivity

HP:0000992

Defective DNA repair after ultraviolet radiation damage

HP:0003079

Deficient excision of UV-induced pyrimidine dimers in DNA

HP:0003213

Numerous pigmented freckles

HP:0007587

Papules

HP:0200034

Senile wart

HP:0031287

Related Conditions

Xeroderma pigmentosum(parent)

Quick Facts

SNOMED CT: 42530008
UMLS CUI: C0268140
Fully Specified Name: Xeroderma pigmentosum, group F (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.