Uveal coloboma - cleft lip and palate - intellectual deficit

Preferred Label : Uveal coloboma - cleft lip and palate - intellectual deficit;

ICD-11 definition : Uveal coloboma - cleft lip and palate - intellectual deficit syndrome is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree.;

Details

Origin ID

1075244497;

Currated CISMeF NLP mapping
- Coloboma, cleft lip-palate and mental retardation syndrome [MeSH Supplementary Concept]
- Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development [OMIM Phenotype]
- 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]
- coloboma, uveal, with cleft lip and palate and mental retardation [MeSH concept]
- coloboma, uveal, with cleft lip and palate and mental retardation [MeSH Supplementary Concept]

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