Hemimegalencephaly

Preferred Label : Hemimegalencephaly;

NCIt synonyms : Unilateral Megalencephaly;

NCIt definition : A rare congenital condition in which one half of the brain is abnormally large. It is characterized by developmental delay and severe seizures.;

Détails

Origin ID

C177779;

UMLS CUI

C0431391;

Currated CISMeF NLP mapping
- Hemimegalencephaly [MedDRA Preferred Term]
- Hemimegalencephaly [HPO term]
- Hemimegalencephaly [ICD-11 More detail]
- Hemimegalencephaly [MeSH Descriptor]
- Hemimegalencephaly [ORDO Disease]
- Hemimegalencephaly (disorder) [SNOMED CT concept]
- hemimegalencephaly [MeSH concept]
- hemimegalencephaly [Disease (Nov.)]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hemimegalencephaly [MeSH Descriptor]
- Hemimegalencephaly [MedDRA Preferred Term]
- Hemimegalencephaly [HPO term]
- Hemimegalencephaly [ORDO Disease]
- Hemimegalencephaly [MedDRA LLT]
- Hemimegalencephaly (disorder) [SNOMED CT concept]
- hemimegalencephaly [MeSH concept]
- hemimegalencephaly [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- PIK3CA Gene [NCIt concept]

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

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