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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

Término preferido

Aicardi Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

  • 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

En otras lenguas

URI

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

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RDF/XML TURTLE JSON-LD Creado 25/6/10, última modificación 8/7/13