aural atresia, multiple congenital anomalies, and mental retardation

Preferred Label : aural atresia, multiple congenital anomalies, and mental retardation;

MeSH note : Atresia of the auditory canal, ventricular septal defect, anteriorly displaced anus, mild clubfoot, mental retardation.;

Details

Origin ID

C565923;

UMLS CUI

C1859591;

CISMeF manual mappings
- Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aural atresia, multiple congenital anomalies, and impaired intellectual development [OMIM Phenotype]
- Cooper-Jabs syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- ear canal [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- aural atresia, multiple congenital anomalies, and mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aural atresia, multiple congenital anomalies, and impaired intellectual development [OMIM Phenotype]
- Cooper-Jabs syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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