Xeroderma Pigmentosum, Complementation Group B

Preferred Label : Xeroderma Pigmentosum, Complementation Group B;

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

NCIt definition : Xeroderma pigmentosum caused by bi-allelic mutations in ERCC3 gene.;

Details

Origin ID

C3966;

UMLS CUI

C0268136;

Currated CISMeF NLP mapping
- Xeroderma pigmentosum B [ICD-11 More detail]
- Xeroderma pigmentosum complementation group B [ORDO Disease]
- Xeroderma pigmentosum, complementation group b [OMIM Phenotype]
- Xeroderma pigmentosum, group B (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group B [DO Concept]
- xeroderma pigmentosum group B [Disease (Nov.)]
- xeroderma pigmentosum, complementation group B [MeSH concept]
- xeroderma pigmentosum, complementation group B [MeSH Supplementary Concept]
- xeroderma pigmentosum, group b [SNOMED Notion]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma pigmentosum complementation group B [ORDO Disease]
- Xeroderma pigmentosum, complementation group b [OMIM Phenotype]
- Xeroderma pigmentosum, group B (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group B [DO Concept]
- xeroderma pigmentosum group B [Disease (Nov.)]
- xeroderma pigmentosum, complementation group B [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group B [MeSH concept]
- xeroderma pigmentosum, group b [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- ERCC3 Gene [NCIt concept]
- ERCC3 wt Allele [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- ERCC3 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
- ERCC3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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