Preferred Label : Epstein syndrome;
ICD-11 definition : Epstein syndrome is one form of the ''MYH9 syndrome'' (a group that includes four
clinical forms with similar manifestations resulting from mutations in the MYH9 gene:
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome),
characterized by usually severe macrothrombocytopenia but paradoxically resulting
in few if any symptoms. Macrothrombocytopenia is defined as the presence of giant
platelets, with a diameter equal to or greater than that of a red blood cell. Epstein
syndrome clinically resembles Fechtner syndrome (renal involvement marked by interstitial
glomerulonephritis and sensorineural deafness associated with thrombopenia), but it
can be distinguished by the absence of cataract.;
Origin ID : 1379284603;
UMLS CUI : C0398641;
Currated CISMeF NLP mapping
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT
Epstein syndrome is one form of the ''MYH9 syndrome'' (a group that includes four
clinical forms with similar manifestations resulting from mutations in the MYH9 gene:
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome),
characterized by usually severe macrothrombocytopenia but paradoxically resulting
in few if any symptoms. Macrothrombocytopenia is defined as the presence of giant
platelets, with a diameter equal to or greater than that of a red blood cell. Epstein
syndrome clinically resembles Fechtner syndrome (renal involvement marked by interstitial
glomerulonephritis and sensorineural deafness associated with thrombopenia), but it
can be distinguished by the absence of cataract.