brachydactyly, type E

Preferred Label : brachydactyly, type E;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0566494;

UMLS CUI

C1862102;

Automatic exact mappings (from CISMeF team)
- Brachydactyly, type e1 [OMIM Phenotype]
CISMeF manual mappings
- Brachydactyly syndrome type E (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachydactyly type E [ICD-11 More detail]
- Brachydactyly type E [ORDO Disease]
- Type E brachydactyly [HPO term]
- brachydactyly syndrome type e [SNOMED Notion]
Related record
- brachydactyly, type E [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly, type e1 [OMIM Phenotype]
- Type E brachydactyly [HPO term]
- brachydactyly type E1 [DO Concept]