lissencephaly - CISMeF

Preferred Label : lissencephaly;

MeSH definition : A smooth brain malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.; A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.;

MeSH synonym : lissencephalies; lissencephalia;

CISMeF synonym : lissencephalias;

Related MeSH term : agyria; pachygyria; Agyrias; Pachygyrias; Broad Gyri of Cerebrum; Large Gyri of Cerebrum; Macrogyria; Macrogyrias;

MeSH annotation : note specifics; MICROLISSENCEPHALY is also available; note specifics; MICROLISSENCEPHALY see MICROCEPHALY is also available;

Wikipedia link : https://en.wikipedia.org/wiki/Lissencephaly;

Details

Origin ID

D054082;

UMLS CUI

C0266463;

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]
Automatic exact mappings (from CISMeF team)
- Agyria [HPO term]
- Agyria [MedDRA LLT]
- Agyria (disorder) [Inactive SNOMED CT concept]
- Lissencephaly [OMIM phenotypic series]
- Macrogyria [HPO term]
- Macrogyria [MedDRA LLT]
- Macrogyria (disorder) [SNOMED CT concept]
- Other reduction deformities of brain [ICD-10 Sub-category (who)]
- Other reduction deformities of brain [ICD-10 Sub-category]
- Other specified congenital malformations of brain [ICD-10 Sub-category]
- Pachygyria [HPO term]
- Pachygyria [MedDRA Preferred Term]
- agyria [SNOMED Notion]
- macrogyria [SNOMED Notion]
- pachygyria [Radlex concept]
Currated CISMeF NLP mapping
- Lissencephaly [NCIt concept]
- Lissencephaly [PASCAL descriptor]
- Lissencephaly [HPO term]
- Lissencephaly [MedDRA Preferred Term]
- Lissencephaly [ORDO Disease]
- Lissencephaly (disorder) [SNOMED CT concept]
- lissencephaly [DO Concept]
- lissencephaly [Disease (Nov.)]
- lissencephaly [Radlex concept]
DO Cross reference
- lissencephaly [DO Concept]
HPO term
- Lissencephaly [HPO term]
- Macrogyria [HPO term]
- Pachygyria [HPO term]
Manual BTNT mappings - CISMeF
- Lissencephaly due to TUBA1A mutation [ORDO Disease]
- Lissencephaly type 3 [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia [ORDO Disease]
- Microlissencephaly [ORDO Disease]
- Other syndrome with lissencephaly as a major feature [ORDO Disease]
- X-linked lissencephaly with abnormal genitalia [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Cerebral malformation with epilepsy [ORDO Disease]
- Non-syndromic central nervous system malformation [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Sucking/swallowing disorder associated with suprabulbar anomalies [ORDO Disease]
ORDO relation(s)
- Lissencephaly [ORDO Disease]
Record concept(s)
- agyria [MeSH concept]
- lissencephaly [MeSH concept]
- pachygyria [MeSH concept]
Related MeSH Supplementary Concept(s)
- Fryns-Aftimos syndrome [MeSH Supplementary Concept]
- kuzniecky syndrome [MeSH Supplementary Concept]
- lissencephaly 3 [MeSH Supplementary Concept]
- lissencephaly type III and bone dysplasia [MeSH Supplementary Concept]
- lissencephaly, familial, with cleft palate and cerebellar hypoplasia [MeSH Supplementary Concept]
- massa casaer ceulemans syndrome [MeSH Supplementary Concept]
- norman roberts lissencephaly syndrome [MeSH Supplementary Concept]
- pachygyria, frontotemporal [MeSH Supplementary Concept]
- partial lissencephaly [MeSH Supplementary Concept]
- winter harding hyde syndrome [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- microcephaly [MeSH Descriptor]
See also inter- (CISMeF)
- pachygyria [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Lissencephaly [ORDO Disease]
- Lissencephaly [NCIt concept]
- Lissencephaly [HPO term]
- Lissencephaly [MedDRA Preferred Term]
- Lissencephaly [PASCAL descriptor]
- Lissencephaly (disorder) [SNOMED CT concept]
- lissencephaly [DO Concept]
- lissencephaly [Radlex concept]
- lissencephaly [Disease (Nov.)]

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