Expresión de búsqueda: MFN=59235 
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Descriptor Inglés:   Shwachman-Diamond Syndrome 
Descriptor Español:   Síndrome de Shwachman-Diamond 
Descriptor Portugués:   Síndrome de Shwachman-Diamond 
Sinónimos Inglés:   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  
Categoría:   C06.689.276.500
C15.378.190.223.500.875
C18.452.584.718.875
Definición Inglés:   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:   2020(2014) 
Calificadores Permitidos Inglés:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Número del Registro:   59235 
Identificador Único:   D000081003 

Ocurrencia en la BVS:
 

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