SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/782909004
http://purl.bioontology.org/ontology/SNOMEDCT/782909004
Preferred Name

Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

Definitions
A rare genetic constitutional coagulation factor defect disorder characterized by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and in female patients ovarian hematomas after ovulation. A rare genetic constitutional coagulation factor defect disorder characterised by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous haematomas, haematomas following minor trauma or surgery and in female patients ovarian haematomas after ovulation.
Synonyms
Haemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (disorder)
Type http://www.w3.org/2002/07/owl#Class
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