Cockayne Syndrome Type B

Preferred Label : Cockayne Syndrome Type B;

NCIt definition : Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.;

Details

Origin ID

C135726;

UMLS CUI

C0751038;

Currated CISMeF NLP mapping
- Cockayne syndrome b [OMIM Phenotype]
- Cockayne syndrome type 2 [ORDO Disease]
- Cockayne syndrome type 2 [ICD-11 More detail]
- Cockayne syndrome type 2 (disorder) [SNOMED CT concept]
- cockayne syndrome, type II [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cockayne syndrome b [OMIM Phenotype]
- Cockayne syndrome type 2 [ORDO Disease]
- Cockayne syndrome type 2 (disorder) [SNOMED CT concept]
- cockayne syndrome, type II [MeSH concept]
Validated automatic mappings to NTBT
- cockayne syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- ERCC6 Gene [NCIt concept]
- ERCC8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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