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Andersen Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.

Concepto genérico

Etiquetas alternativas

  • Andersen Cardiodysrhythmic Periodic Paralysis
  • Andersen Cardiodysrythmic Periodic Paralysis
  • Andersen Tawil Syndrome
  • Andersen-Tawil Syndrome
  • Long QT Syndrome 7
  • Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
  • Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features

En otras lenguas

  • francés

  • Paralysie périodique avec dysrythmie cardiaque d'Andersen
  • Paralysie périodique sensible au potassium avec dysrythmie cardiaque
  • Paralysie périodique sensible au potassium, ectopie ventriculaire et caractéristiques dysphormiques
  • QT long type 7
  • Syndrome d'Andersen-Tawil
  • Syndrome du QT long de type 7

URI

http://data.loterre.fr/ark:/67375/JVR-MS80LFRT-N

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