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DeCS
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Descritor Inglês:
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Shwachman-Diamond Syndrome
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Descritor Espanhol:
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Síndrome de Shwachman-Diamond
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Descritor Português:
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Síndrome de Shwachman-Diamond
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Sinônimos Inglês:
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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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Categoria:
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C06.689.276.500
C15.378.190.223.500.875
C18.452.584.718.875
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Definição Inglês:
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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 Inglês:
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2020(2014)
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Qualificadores Permitidos Inglês:
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Número do Registro:
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59235
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Identificador Único:
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D000081003
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Ocorrência na BVS:
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Similar:
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DeCS
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