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

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

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0565473;

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]
Related record
- coloboma, uveal, with cleft lip and palate and mental retardation [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]