coloboma, uveal, with cleft lip and palate and mental retardation

Preferred Label : coloboma, uveal, with cleft lip and palate and mental retardation;

Origin ID

C565173;

UMLS CUI

C1852750;

Currated CISMeF NLP mapping
- Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development [OMIM Phenotype]
- Uveal coloboma - cleft lip and palate - intellectual deficit [ICD-11 More detail]
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Uveal coloboma-cleft lip and palate-intellectual disability [ORDO Disease]
MeSH term(s) associated for indexing
- cleft lip [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- uvea [MeSH Descriptor]
Record concept(s)
- coloboma, uveal, with cleft lip and palate and mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]