Xeroderma Pigmentosum, Complementation Group D

Preferred Label : Xeroderma Pigmentosum, Complementation Group D;

NCIt synonyms : XP-D; Xeroderma Pigmentosum Complementation Group D; Xeroderma Pigmentosum Group D;

NCIt definition : Xeroderma pigmentosum caused by bi-allelic mutations in ERCC2 gene.;

Details

Origin ID

C3967;

UMLS CUI

C0268138;

Currated CISMeF NLP mapping
- Xeroderma pigmentosum D [ICD-11 More detail]
- Xeroderma pigmentosum complementation group D [ORDO Disease]
- Xeroderma pigmentosum, complementation group D [OMIM Phenotype]
- Xeroderma pigmentosum, group D (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group D [DO Concept]
- xeroderma pigmentosum group D [Disease (Nov.)]
- xeroderma pigmentosum, complementation group D [MeSH concept]
- xeroderma pigmentosum, complementation group D [MeSH Supplementary Concept]
- xeroderma pigmentosum, group d [SNOMED Notion]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- ERCC excision repair 2, TFIIH core complex helicase subunit [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma pigmentosum D [ICD-11 More detail]
- Xeroderma pigmentosum complementation group D [ORDO Disease]
- Xeroderma pigmentosum, complementation group D [OMIM Phenotype]
- Xeroderma pigmentosum, group D (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group D [DO Concept]
- xeroderma pigmentosum group D [Disease (Nov.)]
- xeroderma pigmentosum, complementation group D [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group D [MeSH concept]
- xeroderma pigmentosum, group d [SNOMED Notion]
associated_with_malfunction_of_gene_product
- General Transcription and DNA Repair Factor IIH Helicase Subunit XPD [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- ERCC2 Gene [NCIt concept]
- ERCC2 wt Allele [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- ERCC2 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
- ERCC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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