Xeroderma Pigmentosum, Complementation Group C

Preferred Label : Xeroderma Pigmentosum, Complementation Group C;

NCIt synonyms : XP-C; Xeroderma Pigmentosum Group C;

NCIt definition : An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.;

Details

Origin ID

C114770;

UMLS CUI

C2752147;

Currated CISMeF NLP mapping
- Xeroderma pigmentosum C [ICD-11 More detail]
- Xeroderma pigmentosum complementation group C [ORDO Disease]
- Xeroderma pigmentosum, Complementation group C [OMIM Phenotype]
- Xeroderma pigmentosum, group C (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group C [DO Concept]
- xeroderma pigmentosum group C [Disease (Nov.)]
- xeroderma pigmentosum, complementation group C [MeSH concept]
- xeroderma pigmentosum, complementation group C [MeSH Supplementary Concept]
- xeroderma pigmentosum, group c [SNOMED Notion]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- XPC complex subunit, DNA damage recognition and repair factor [ORDO Gene]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- XPC complex subunit, DNA damage recognition and repair factor [ORDO Gene]
- Xeroderma pigmentosum complementation group C [ORDO Disease]
- Xeroderma pigmentosum, Complementation group C [OMIM Phenotype]
- Xeroderma pigmentosum, group C (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group C [DO Concept]
- xeroderma pigmentosum group C [Disease (Nov.)]
- xeroderma pigmentosum, complementation group C [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group C [MeSH concept]
- xeroderma pigmentosum, group c [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- XPC Gene [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
- XPC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients