cobblestone lissencephaly

Preferred Label : cobblestone lissencephaly;

MeSH definition : The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.;

MeSH synonym : lissencephaly type 2; dysplasia, cobblestone; lissencephalies, cobblestone; cobblestone lissencephalies; lissencephaly, cobblestone; cobblestone dysplasia; cobblestone dysplasias; dysplasias, cobblestone;

MeSH hyponym : cobblestone complex;

Details

Origin ID

D054222;

UMLS CUI

C0431376;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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]
- Lissencephaly type 2 [ICD-11 More detail]
- Type 2 lissencephaly (disorder) [SNOMED CT concept]
- Type II lissencephaly [HPO term]
- lissencephaly 2 [Disease (Nov.)]
False automatic mappings
- Cobblestone lissencephaly type A [ORDO Disease]
HPO term
- Type II lissencephaly [HPO term]
Manual BTNT mappings - CISMeF
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Congenital muscular dystrophy due to glycosyltransferase anomaly [ORDO Disease]
- Congenital vitreoretinal dysplasia [ORDO Disease]
- Qualitative or quantitative defects of FKRP [ORDO Disease]
- Qualitative or quantitative defects of fukutin [ORDO Disease]
- Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase [ORDO Disease]
- Qualitative or quantitative defects of protein O-mannosyltransferase 1 [ORDO Disease]
- Qualitative or quantitative defects of protein O-mannosyltransferase 2 [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
Record concept(s)
- cobblestone complex [MeSH concept]
- cobblestone lissencephaly [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cobblestone lissencephaly [ORDO Disease]
- Type 2 lissencephaly (disorder) [SNOMED CT concept]
- Type II lissencephaly [HPO term]

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