kapur toriello syndrome

Preferred Label : kapur toriello syndrome;

MeSH note : Mental and growth retardation, congenital defects, heart abnormalities, intestinal malrotation, characteristic facies;

CISMeF synonym : long columella with cleft lip/palate and eye, heart, and intestinal anomalies;

MeSH synonym : cleft lip palate, facial, eye, heart and intestinal anomalies; Long columella with cleft lip-palate and eye, heart, and intestinal anomalies;

Détails

Origin ID

C537008;

UMLS CUI

C0796005;

Currated CISMeF NLP mapping
- Kapur Toriello syndrome (disorder) [SNOMED CT concept]
- Kapur-Toriello syndrome [ORDO Disease]
- Kapur-toriello syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- cleft lip [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- intestines [MeSH Descriptor]
ORDO relation(s)
- Kapur-Toriello syndrome [ORDO Disease]
Record concept(s)
- Kapur Toriello syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kapur Toriello syndrome (disorder) [SNOMED CT concept]
- Kapur-Toriello syndrome [ORDO Disease]
- Kapur-toriello syndrome [OMIM Phenotype]

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