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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Aicardi Syndrome
Eye Diseases > Eye Diseases, Hereditary > Aicardi Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Aicardi Syndrome
Pathological Conditions, Signs and Symptoms > Pathological Conditions, Anatomical > Agenesis of Corpus Callosum > Aicardi Syndrome
Nervous System Diseases > Nervous System Malformations > Agenesis of Corpus Callosum > Aicardi Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Agenesis of Corpus Callosum > Aicardi Syndrome

Preferred term

Aicardi Syndrome  

Type

  • mesh:Descriptor

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.

Broader concept

Entry terms

  • Agenesis of Corpus Callosum with Chorioretinal Abnormality
  • Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
  • Aicardi's Syndrome
  • Callosal Agenesis and Ocular Abnormalities
  • Chorioretinal Anomalies with Acc
  • Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-NNF6WD0C-X

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RDF/XML TURTLE JSON-LD Created 6/25/10, last modified 7/8/13