Xeroderma Pigmentosum

Preferred Label : Xeroderma Pigmentosum;

NCIt definition : An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.;

Alternative definition : NCI-GLOSS: A genetic condition marked by an extreme sensitivity to ultraviolet radiation, including sunlight. People with xeroderma pigmentosum are not able to repair skin damage from the sun and other sources of ultraviolet radiation, and have a very high risk of skin cancer.;

Codes from synonyms : CDR0000046091;

Details

Origin ID

C3452;

UMLS CUI

C0043346;

Automatic exact mappings (from CISMeF team)
- ERCC excision repair 4, endonuclease catalytic subunit [HGNC gene]
- Kaposi sarcoma [ORDO Disease]
- Xeroderma pigmentosum A [ICD-11 More detail]
- Xeroderma pigmentosum, Complementation group C [OMIM Phenotype]
- Xeroderma pigmentosum, complementation group a [OMIM Phenotype]
- Xeroderma pigmentosum, complementation group e [OMIM Phenotype]
- sarcoma, kaposi [MeSH Descriptor]
- xeroderma pigmentosum, group a [SNOMED Notion]
- xeroderma pigmentosum, group b [SNOMED Notion]
- xeroderma pigmentosum, group c [SNOMED Notion]
- xeroderma pigmentosum, group d [SNOMED Notion]
- xeroderma pigmentosum, group e [SNOMED Notion]
- xeroderma pigmentosum, group f [SNOMED Notion]
- xeroderma pigmentosum, group g [SNOMED Notion]
Currated CISMeF NLP mapping
- Xeroderma pigmentosum [PASCAL descriptor]
- Xeroderma pigmentosum [ICD-10 Sub-category]
- Xeroderma pigmentosum [ICD-11 Subcategory]
- Xeroderma pigmentosum [ICD-10 Sub-category (who)]
- Xeroderma pigmentosum [HPO term]
- Xeroderma pigmentosum [MedDRA Preferred Term]
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum (disorder) [SNOMED CT concept]
- pigmented xerodermoid [SNOMED Notion]
- xeroderma pigmentosum [DO Concept]
- xeroderma pigmentosum [Disease (Nov.)]
- xeroderma pigmentosum [MeSH Descriptor]
- xeroderma pigmentosum [MeSH concept]
- xeroderma pigmentosum, nos [SNOMED Notion]
DO Cross reference
- xeroderma pigmentosum [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum [ICD-10 Sub-category]
- Xeroderma pigmentosum [HPO term]
- Xeroderma pigmentosum [PASCAL descriptor]
- Xeroderma pigmentosum [ICD-11 Subcategory]
- Xeroderma pigmentosum [ICD-10 Sub-category (who)]
- Xeroderma pigmentosum [MedDRA Preferred Term]
- Xeroderma pigmentosum (disorder) [SNOMED CT concept]
- xeroderma pigmentosum [DO Concept]
- xeroderma pigmentosum [Disease (Nov.)]
- xeroderma pigmentosum [MeSH concept]
- xeroderma pigmentosum [MeSH Descriptor]
- xeroderma pigmentosum, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Pigmented xerodermoid (disorder) [Inactive SNOMED CT concept]
- pigmented xerodermoid [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- DNA Damage-Binding Protein 2 [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_associated_gene
- DDB2 Gene [NCIt concept]
- DDB2 wt Allele [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_may_have_associated_disease
- Cutaneous Melanoma [NCIt concept]
- Skin Basal Cell Carcinoma [NCIt concept]
- Skin Squamous Cell Carcinoma [NCIt concept]
related_to_genetic_biomarker
- DDB2 Gene [NCIt concept]
- ERCC2 Gene [NCIt concept]
- ERCC3 Gene [NCIt concept]
- ERCC4 Gene [NCIt concept]
- ERCC5 Gene [NCIt concept]
- POLH Gene [NCIt concept]
- XPA Gene [NCIt concept]
- XPC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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