curatolo cilio pessagno syndrome

Preferred Label : curatolo cilio pessagno syndrome;

MeSH note : Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency;

MeSH synonym : white matter hypoplasia, corpus callosum agenesia, and mental retardation;

Details

Origin ID

C536701;

UMLS CUI

C2931292;

Currated CISMeF NLP mapping
- White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder) [SNOMED CT concept]
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- agenesis of corpus callosum [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- malformations of cortical development [MeSH Descriptor]
Record concept(s)
- Curatolo Cilio Pessagno syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder) [SNOMED CT concept]
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome [ORDO Disease]

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