aicardi syndrome

Preferred Label : aicardi syndrome;

MeSH definition : A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.;

MeSH synonym : syndrome, aicardi; aicardi's syndrome; syndrome, aicardi's; corpus callosum, agenesis of, with chorioretinal abnormality; chorioretinal anomalies with acc; agenesis of corpus callosum with infantile spasms and ocular abnormalities; callosal agenesis and ocular abnormalities; agenesis of corpus callosum with chorioretinal abnormality;

CISMeF synonym : Aicardi;

Wikipedia link : https://en.wikipedia.org/wiki/Aicardi syndrome;

Details

Origin ID

D058540;

UMLS CUI

C0175713;

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
- Aicardi Syndrome [NCIt concept]
- Aicardi syndrome [PASCAL descriptor]
- Aicardi syndrome [DO Concept]
- Aicardi syndrome [Disease (Nov.)]
- Aicardi syndrome [ICD-11 More detail]
- Aicardi syndrome [OMIM Phenotype]
- Aicardi syndrome [ORDO Disease]
- Aicardi's syndrome [MedDRA Preferred Term]
- Aicardi's syndrome (disorder) [SNOMED CT concept]
- aicardi's syndrome [SNOMED Notion]
DO Cross reference
- Aicardi syndrome [DO Concept]
ORDO relation(s)
- Aicardi syndrome [ORDO Disease]
Record concept(s)
- aicardi syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi Syndrome [NCIt concept]
- Aicardi syndrome [OMIM Phenotype]
- Aicardi syndrome [ORDO Disease]
- Aicardi syndrome [DO Concept]
- Aicardi syndrome [PASCAL descriptor]
- Aicardi syndrome [Disease (Nov.)]
- Aicardi's syndrome [MedDRA Preferred Term]
- Aicardi's syndrome (disorder) [SNOMED CT concept]
- aicardi's syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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