battaglia neri syndrome

Preferred Label : battaglia neri syndrome;

MeSH note : Mental retardation, coarse faces, microcephaly, moderate to severe mental retardation, epilepsy and skeletal abnormalities;

Details

Origin ID

C537662;

UMLS CUI

C2931579;

Automatic exact mappings (from CISMeF team)
- Impaired intellectual development, microcephaly, epilepsy, and coarse face [OMIM Phenotype]
Currated CISMeF NLP mapping
- Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
- Epilepsy-microcephaly-skeletal dysplasia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- bone diseases, developmental [MeSH Descriptor]
- epilepsy [MeSH Descriptor]
- face [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
ORDO relation(s)
- Epilepsy-microcephaly-skeletal dysplasia syndrome [ORDO Disease]
Record concept(s)
- Battaglia Neri syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
- Epilepsy-microcephaly-skeletal dysplasia syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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