SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/783251006
http://purl.bioontology.org/ontology/SNOMEDCT/783251006
Preferred Name

Hereditary thrombocytopenia with normal platelets

Definitions
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. A rare genetic isolated constitutional thrombocytopenia disease with characteristics of decreased platelet counts not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. A rare, genetic, isolated constitutional thrombocytopenia disease characterised by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.
Synonyms
Hereditary thrombocytopenia with normal platelets (disorder)
Type http://www.w3.org/2002/07/owl#Class
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