mental retardation, microcephaly, epilepsy, and coarse face

Preferred Label : mental retardation, microcephaly, epilepsy, and coarse face;

Origin ID

C563342;

UMLS CUI

C1832437;

Automatic exact mappings (from CISMeF team)
- Epilepsy-microcephaly-skeletal dysplasia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Mental retardation, microcephaly, epilepsy, and coarse face [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- epilepsy [MeSH Descriptor]
- facies [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
Record concept(s)
- mental retardation, microcephaly, epilepsy, and coarse face [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental retardation, microcephaly, epilepsy, and coarse face [OMIM Phenotype]