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monarch-initiative / HPO-UMLS-Integration

Repository for HPO UMLS integration QA code and tracking issues
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HP:0001973 Idio[pathic vs. autoimmune thrombocytopenia #28

Closed mirandajarnot closed 8 years ago

mirandajarnot commented 9 years ago

HPO has Autoimmune and Idiopathic Thrombocytopenia in the same concept. Should Autoimmune be narrower? We have separate concepts for each of these in the Metathesaurus.

Thanks, Miranda

pnrobinson commented 8 years ago

Actually, idiopathic thrombocytopenia is not a good concept for the HPO since it is not describing a specific phenotype, but rather a phenotype whose cause is unknown. Autoimmune thrombocytopenia is on the borderline between a specific phenotype and a disease, but it is I think valid to describe the finding of low platelets together with platelet autoantibodies. In principle, "Autoimmune thrombocytopenia" is seen with the disease "Idiopathic thrombocytopenic purpura", which I think is a valid RELATED_SYNONYM. I have therefore removed the database xref (UMLS:C0920163 - idiopathic thrombocytopenia), and also the EXACT_SYNONYM of the same name. I have changed "Idiopathic thrombocytopenic purpura" to a RELATED_SYNONYM. Please re-open if this does not work for you! -Peter