atrioventricular septal defect with blepharophimosis and anal and radial defects

Preferred Label : atrioventricular septal defect with blepharophimosis and anal and radial defects;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0564294;

UMLS CUI

C1838606;

Automatic exact mappings (from CISMeF team)
- Atrioventricular septal defect with blepharophimosis and anal and radial defects [OMIM Phenotype]
Related record
- atrioventricular septal defect with blepharophimosis and anal and radial defects [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome [ORDO Disease]
- Atrioventricular septal defect with blepharophimosis and anal and radial defects [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients