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

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

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0564809;

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]
Related record
- corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [MeSH Supplementary 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]

Keyword's position in hierarchy(ies) :

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