dyskeratosis congenita, autosomal dominant

Preferred Label : dyskeratosis congenita, autosomal dominant;

MeSH synonym : dyskeratosis congenita, scoggins type;

Origin ID

C565079;

UMLS CUI

C1851970;

Currated CISMeF NLP mapping
- Autosomal dominant dyskeratosis congenita [ICD-11 More detail]
- Autosomal dominant dyskeratosis congenita (disorder) [SNOMED CT concept]
- Dyskeratosis congenita, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant dyskeratosis congenita 1 [DO Concept]
MeSH term(s) associated for indexing
- dyskeratosis congenita [MeSH Descriptor]
Record concept(s)
- dyskeratosis congenita, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant dyskeratosis congenita (disorder) [SNOMED CT concept]
- Dyskeratosis congenita, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant dyskeratosis congenita 1 [DO Concept]
Validated automatic mappings to BTNT
- Dyskeratosis Congenita, Autosomal Dominant 1 [NCIt concept]