aural atresia, multiple congenital anomalies, and mental retardation

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

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0566223;

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]
Related record
- aural atresia, multiple congenital anomalies, and mental retardation [MeSH Supplementary 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]