Shwachman-Diamond syndrome

Orpha code: 811OMIM code: 617941

Definition

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

Disease data
Classification

Disease

Synonyms
Pancreatic insufficiency and bone marrow dysfunction
Niewydolność trzustki i dysfunkcja szpiku kostnego
SDS
Zespół Shwachmana
Zespół Shwachmana, Bodiana i Diamonda
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
ORPHA code
811
OMIM code
617941
ICD10 code
D61.0
ICD11 code
3A70.0

No additional description.

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