corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia

Preferred Label : corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia;

Origin ID

C564509;

UMLS CUI

C1845446;

CISMeF manual mappings
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia [OMIM Phenotype]
- corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome [DO Concept]
MeSH term(s) associated for indexing
- agenesis of corpus callosum [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- micrognathism [MeSH Descriptor]
Record concept(s)
- corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome [ORDO Disease]
- Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia [OMIM Phenotype]