xeroderma pigmentosum, complementation group B

Preferred Label : xeroderma pigmentosum, complementation group B;

MeSH note : mutation in ERCC3 excision repair gene, which is also found in Cockayne syndrome;

MeSH synonym : xeroderma pigmentosum, group B;

Détails

Origin ID

C562590;

UMLS CUI

C0268136;

Automatic exact mappings (from CISMeF team)
- ERCC excision repair 3, TFIIH core complex helicase subunit [ORDO Gene]
- ERCC excision repair 3, TFIIH core complex helicase subunit [HGNC gene]
Currated CISMeF NLP mapping
- Xeroderma Pigmentosum, Complementation Group B [NCIt concept]
- 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, group b [SNOMED Notion]
MeSH term(s) associated for indexing
- xeroderma pigmentosum [MeSH Descriptor]
Record concept(s)
- xeroderma pigmentosum, complementation group B [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma Pigmentosum, Complementation Group B [NCIt 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, group b [SNOMED Notion]

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