The glossary is a listing of high-level terms which can be drilled into and expanded to provide specific definitions.

We wish to thank our Medical Advisors, especially Susan Burroughs, M.D.,
Peter Durie, M.D. and F. Jean Perrault, M.D. for their assistance in the preparation of this glossary.

With help from Joan Mowery and additions by Johanna Rommens, PhD

SDS Glossary – revised 2018 April 1

Copyright Shwachman-Diamond Syndrome Intl. 2000. All rights reserved.


Shwachman-Diamond Syndrome Registry
Global Genese Rare Foundation Alliance
Genetic Alliance
NORD 2021 Platinum Member
Translate »