Aural atresia, multiple congenital anomalies, and impaired intellectual development

Preferred Label : Aural atresia, multiple congenital anomalies, and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Aural atresia, multiple congenital anomalies, and mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 209770;

Details

Origin ID

209770;

UMLS CUI

C1859591;

CISMeF manual mappings
- Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cooper-Jabs syndrome [ORDO Disease]
- aural atresia, multiple congenital anomalies, and mental retardation [MeSH concept]
- aural atresia, multiple congenital anomalies, and mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Intellectual disability [HPO term]
- Talipes equinovarus [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Cooper-Jabs syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cooper-Jabs syndrome [ORDO Disease]
- aural atresia, multiple congenital anomalies, and mental retardation [MeSH Supplementary Concept]
- aural atresia, multiple congenital anomalies, and mental retardation [MeSH concept]

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