atrioventricular septal defect with blepharophimosis and anal and radial defects

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

Origin ID

C563994;

UMLS CUI

C1838606;

CISMeF manual mappings
- Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome [ORDO Disease]
- Atrioventricular septal defect with blepharophimosis and anal and radial defects [OMIM Phenotype]
MeSH term(s) associated for indexing
- anal canal [MeSH Descriptor]
- blepharophimosis [MeSH Descriptor]
- heart septal defects [MeSH Descriptor]
- radius [MeSH Descriptor]
- urogenital abnormalities [MeSH Descriptor]
Record concept(s)
- atrioventricular septal defect with blepharophimosis and anal and radial defects [MeSH 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]