Lissencephaly - CISMeF

Preferred Label : Lissencephaly;

NCIt definition : A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.;

Alternative definition : NICHD: A brain malformation characterized by smooth folds and grooves in the brain.;

Details

Origin ID

C103921;

UMLS CUI

C0266463;

Automatic exact mappings (from CISMeF team)
- Lissencephaly [OMIM phenotypic series]
- Other reduction deformities of brain [ICD-10 Sub-category (who)]
- Other reduction deformities of brain [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Lissencephaly [ORDO Disease]
- Lissencephaly [MedDRA Preferred Term]
- Lissencephaly [PASCAL descriptor]
- Lissencephaly [HPO term]
- Lissencephaly (disorder) [SNOMED CT concept]
- lissencephaly [MeSH concept]
- lissencephaly [MeSH Descriptor]
- lissencephaly [Radlex concept]
- lissencephaly [DO Concept]
- lissencephaly [Disease (Nov.)]
DO Cross reference
- lissencephaly [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Lissencephaly [ORDO Disease]
- Lissencephaly [MedDRA Preferred Term]
- Lissencephaly [HPO term]
- Lissencephaly [PASCAL descriptor]
- Lissencephaly (disorder) [SNOMED CT concept]
- agyria [MeSH concept]
- lissencephaly [MeSH concept]
- lissencephaly [MeSH Descriptor]
- lissencephaly [Radlex concept]
- lissencephaly [DO Concept]
- lissencephaly [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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