aortic arch anomaly with peculiar facies and mental retardation

Preferred Label : aortic arch anomaly with peculiar facies and mental retardation;

MeSH note : Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism;

Details

Origin ID

C537785;

UMLS CUI

C1862682;

Currated CISMeF NLP mapping
- Aortic arch anomaly with peculiar facies and impaired intellectual development [OMIM Phenotype]
- Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- aorta, thoracic [MeSH Descriptor]
- facies [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
Record concept(s)
- Aortic arch anomaly with peculiar facies and mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aortic arch anomaly with peculiar facies and impaired intellectual development [OMIM Phenotype]
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients