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DeCS
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Descriptor Inglés:
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Shwachman-Diamond Syndrome
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Descriptor Español:
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Síndrome de Shwachman-Diamond
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Descriptor Portugués:
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Síndrome de Shwachman-Diamond
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Sinónimos Inglés:
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Congenital Lipomatosis of Pancreas
Metaphyseal Chondrodysplasia, Shwachman Type
Pancreas Congenital Lipomatoses
Pancreas Congenital Lipomatosis
Pancreatic Insufficiency and Bone Marrow Dysfunction
Shwachman Bodian Diamond Syndrome
Shwachman Bodian Syndrome
Shwachman Diamond Oski Syndrome
Shwachman Diamond Syndrome
Shwachman Syndrome
Shwachman-Bodian Syndrome
Shwachman-Bodian-Diamond Syndrome
Shwachman-Diamond-Oski Syndrome
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Categoría:
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C06.689.276.500
C15.378.190.223.500.875
C18.452.584.718.875
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Definición Inglés:
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An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome. |
Nota Histórica Inglés:
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2020(2014)
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Calificadores Permitidos Inglés:
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Número del Registro:
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59235
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Identificador Único:
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D000081003
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Ocurrencia en la BVS:
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Similar:
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DeCS
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