kuzniecky syndrome

Preferred Label : kuzniecky syndrome;

MeSH synonym : pachygyria, mental retardation and epilepsy; pachygyria with mental retardation and seizures;

Détails

Origin ID

C538091;

UMLS CUI

C1838491;

Currated CISMeF NLP mapping
- Pachygyria with impaired intellectual development, seizures, and arachnoid cysts [OMIM Phenotype]
- Pachygyria, intellectual disability, epilepsy syndrome (disorder) [SNOMED CT concept]
- Pachygyria-intellectual disability-epilepsy syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- epilepsy [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- lissencephaly [MeSH Descriptor]
Record concept(s)
- Kuzniecky syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pachygyria with impaired intellectual development, seizures, and arachnoid cysts [OMIM Phenotype]
- Pachygyria, intellectual disability, epilepsy syndrome (disorder) [SNOMED CT concept]
- Pachygyria-intellectual disability-epilepsy syndrome [ORDO Disease]

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