Lissencephaly type 2

Preferred Label : Lissencephaly type 2;

ICD-11 definition : Lissencephaly type 2, also called cobblestone lissencephaly or cobblestone dysplasia is a type of lissencephaly characterized by a bumpy or granular aspect of the brain surface, associated with shallow sulci (hence the aspect of a lissencephaly), abnormal myelination of the white matter, which may have a cystic appearance in proximity to the cortex, enlarged ventricles, brainstem hypoplasia, cerebellar especially vermis hypoplasia.;

Details

Origin ID

1508227584;

Currated CISMeF NLP mapping
- Cobblestone lissencephaly [ORDO Disease]
- Lissencephaly 2 [OMIM Phenotype]
- Lissencephaly syndrome Norman Roberts type (disorder) [SNOMED CT concept]
- Lissencephaly syndrome, Norman-Roberts type [ORDO Disease]
- Norman Roberts lissencephaly syndrome [MeSH concept]
- Type 2 lissencephaly (disorder) [SNOMED CT concept]
- Type II lissencephaly [HPO term]
- cobblestone lissencephaly [MeSH Descriptor]
- lissencephaly 2 [Disease (Nov.)]
- norman roberts lissencephaly syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- cobblestone lissencephaly [MeSH concept]

Keyword's position in hierarchy(ies) :

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