Coloboma, cleft lip-palate and mental retardation syndrome

Preferred Label : Coloboma, cleft lip-palate and mental retardation syndrome;

CISMeF synonym : coloboma, cleft lip/palate and mental retardation syndrome; uveal coloboma-cleft lip/palate-mental retardation syndrome; coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate;

MeSH synonym : coloboma-microphthalmos syndrome; Coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip-palate; Uveal coloboma-cleft lip-palate-mental retardation syndrome;

Details

Origin ID

C535971;

UMLS CUI

C0795902;

Automatic exact mappings (from CISMeF team)
- uveal coloboma-cleft lip and palate-intellectual disability [DO Concept]
CISMeF manual mappings
- Uveal coloboma-cleft lip and palate-intellectual disability [ORDO Disease]
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]
DO Cross reference
- uveal coloboma-cleft lip and palate-intellectual disability [DO Concept]
MeSH term(s) associated for indexing
- cleft lip [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- hematuria [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
Record concept(s)
- Coloboma, cleft lip-palate and mental retardation syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Uveal coloboma-cleft lip and palate-intellectual disability [ORDO Disease]
- uveal coloboma-cleft lip and palate-intellectual disability [DO Concept]

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