Number of the records: 1  

Shwachmanov-Diamondov syndróm

  1. Record numberd000081003
    Date06.06.2025
    TypeM - MESH
    Topical termShwachmanov-Diamondov syndróm
    Other termEnglish (Pseudonym) Pancreatic Insufficiency and Bone Marrow Dysfunction
    English (Pseudonym) Shwachman-Bodian Syndrome
    English (Pseudonym) Shwachman Diamond Syndrome
    English (Pseudonym) Shwachman Syndrome
    Slovak (Pseudonym) lipomatóza pankreasu, kongenitálna
    Slovak (Pseudonym) lipomatóza pankreasu, vrodená
    Slovak (Pseudonym) chondrodysplázia metafýzová, Swachmanov typ
    Slovak (Pseudonym) insuficiencia pankreasu a dysfunkcia kostnej drene
    Slovak (Pseudonym) Shwachmanov-Diamondov syndróm
    Slovak (Pseudonym) Shwachmanov syndróm
    Slovak (Pseudonym) Shwachman-Bodianov syndróm
    Slovak (Pseudonym) Shwachman-Bodian-Diamondov syndróm
    Slovak (Pseudonym) Shwachman-Diamond-Oski syndróm
    UDCC06.689.276.500C15.378.190.223.500.875C18.452.584.563.824C18.452.584.718.875
    NoteAn 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.
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Number of the records: 1  

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