Classical Lissencephaly

Preferred Label : Classical Lissencephaly;

NCIt synonyms : Lissencephaly Type I;

NCIt definition : A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation.;

Details

Origin ID

C84640;

UMLS CUI

C0431375;

Automatic exact mappings (from CISMeF team)
- classical lissencephalies and subcortical band heterotopias [MeSH Descriptor]
CISMeF manual mappings
- Type 1 lissencephaly (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 4-layered lissencephaly [HPO term]
- Classic lissencephaly [ICD-11 More detail]
- Classic lissencephaly [ORDO Disease]
- Lissencephaly 1 [OMIM Phenotype]
- lissencephalies, classical [MeSH concept]
- lissencephaly 1 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 4-layered lissencephaly [HPO term]
- Classic lissencephaly [ORDO Disease]
- Lissencephaly 1 [OMIM Phenotype]
- Type 1 lissencephaly (disorder) [SNOMED CT concept]
- lissencephalies, classical [MeSH concept]
- lissencephaly 1 [Disease (Nov.)]
Validated automatic mappings to NTBT
- classical lissencephalies and subcortical band heterotopias [MeSH Descriptor]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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