Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

aligner
annoter
télécharger

Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > CHARGE Syndrome
Eye Diseases > Eye Abnormalities > Coloboma > CHARGE Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Eye Abnormalities > Coloboma > CHARGE Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Coloboma > CHARGE Syndrome
Eye Diseases > Eye Diseases, Hereditary > Coloboma > CHARGE Syndrome

Terme préférentiel

CHARGE Syndrome  

Type

  • mesh:Descriptor

Définition

  • Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.

Concept générique

Synonyme(s)

  • CHARGE Association
  • CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
  • Hall-Hittner Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-WM2FJC02-H

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 25/06/2010, dernière modification le 15/06/2018