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DeCS
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Descriptor Inglés:
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Urea Cycle Disorders, Inborn
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Descriptor Español:
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Trastornos Innatos del Ciclo de la Urea
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Descriptor Portugués:
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Distúrbios Congęnitos do Ciclo da Ureia
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Sinónimos Inglés:
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Disorder, Urea Cycle
Disorders, Urea Cycle
Urea Cycle Disorder
Inborn Urea Cycle Disorder
Urea Cycle Disorders
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Categoría:
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C10.228.140.163.100.937
C16.320.565.100.940
C16.320.565.189.937
C18.452.132.100.937
C18.452.648.100.940
C18.452.648.189.937
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Definición Inglés:
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Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA. |
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Nota Histórica Inglés:
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2010
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Calificadores Permitidos Inglés:
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Número del Registro:
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53507
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Identificador Único:
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D056806
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Ocurrencia en la BVS:
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Similar:
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DeCS CID-10 LILACS
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