Schizencephaly

Preferred Label : Schizencephaly;

NCIt definition : A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures.;

Détails

Origin ID

C99056;

UMLS CUI

C0266484;

Automatic exact mappings (from CISMeF team)
- Congenital cerebral cysts [ICD-10 Sub-category (who)]
- Congenital cerebral cysts [ICD-10 Sub-category]
- Congenital porencephaly (disorder) [SNOMED CT concept]
- Schizencephaly [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- Schizencephaly [OMIM Phenotype]
- Schizencephaly [MedDRA Preferred Term]
- Schizencephaly [ORDO Disease]
- Schizencephaly [HPO term]
- Schizencephaly [HRDO Sign]
- Schizencephaly [MeSH Descriptor]
- Schizencephaly (disorder) [SNOMED CT concept]
- schizencephaly [Disease (Nov.)]
- schizencephaly [MeSH concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Schizencephaly [MedDRA Preferred Term]
- Schizencephaly [OMIM Phenotype]
- Schizencephaly [MeSH Descriptor]
- Schizencephaly [HPO term]
- Schizencephaly [ORDO Disease]
- Schizencephaly [HRDO Sign]
- Schizencephaly (disorder) [SNOMED CT concept]
- schizencephaly [MeSH concept]
- schizencephaly [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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