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DeCS
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Descriptor Inglés:
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Jervell-Lange Nielsen Syndrome
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Descriptor Español:
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síndrome de Jervell-Lange Nielsen
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Descriptor Portugués:
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Síndrome de Jervell-Lange Nielsen
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Sinónimos Inglés:
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Cardio-Auditory-Syncope Syndrome
Cardioauditory Syndrome of Jervell and Lange Nielsen
Cardioauditory Syndrome of Jervell and Lange-Nielsen
Deafness, Congenital, and Functional Heart Disease
Jervell And Lange-Nielsen Syndrome 1
Jervell Lange Nielsen Syndrome
Jervell and Lange Nielsen Syndrome
Jervell and Lange-Nielsen Syndrome
Prolonged QT Interval in EKG and Sudden Death
Surdo Cardiac Syndrome
Surdo-Cardiac Syndrome
Surdo-Cardiac Syndromes
Syndrome, Jervell-Lange Nielsen
Syndrome, Surdo-Cardiac
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Categoría:
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C14.280.067.565.440
C14.280.123.625.440
C16.131.240.400.715.440
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Definición Inglés:
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A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
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Relacionados Inglés:
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KCNQ1 Potassium Channel
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Nota Histórica Inglés:
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2002; use LONG QT SYNDROME 1986-2001
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Calificadores Permitidos Inglés:
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Número del Registro:
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36017
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Identificador Único:
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D029593
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Ocurrencia en la BVS:
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Similar:
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DeCS
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