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Concept information

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

Terme préférentiel

Aicardi Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

  • 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

Qualificatif(s) autorisé(s)

Traductions

URI

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

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RDF/XML TURTLE JSON-LD Date de création 25/06/2010, dernière modification le 08/07/2013