Cockayne Syndrome Type A

Preferred Label : Cockayne Syndrome Type A;

NCIt definition : Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.;

Details

Origin ID

C135725;

UMLS CUI

C0751039;

Currated CISMeF NLP mapping
- Cockayne syndrome a [OMIM Phenotype]
- Cockayne syndrome type 1 [ORDO Disease]
- Cockayne syndrome type 1 (disorder) [SNOMED CT concept]
- cockayne syndrome, type I [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cockayne syndrome a [OMIM Phenotype]
- Cockayne syndrome type 1 [ORDO Disease]
- Cockayne syndrome type 1 (disorder) [SNOMED CT concept]
- cockayne syndrome, type I [MeSH concept]
Validated automatic mappings to NTBT
- Cockayne Syndrome [Radlex concept]
- Cockayne syndrome [ICD-11 More detail]
- Cockayne syndrome [PASCAL descriptor]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome [Disease (Nov.)]
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne's syndrome [MedDRA Preferred Term]
- cockayne syndrome [MeSH Descriptor]
- cockayne syndrome [SNOMED Notion]
- cockayne syndrome [MeSH concept]
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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