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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Small intestinal polyp & Small intestinal hamartoma - Same? #10779

Open kanems opened 1 month ago

kanems commented 1 month ago

HPO term Small intestinal polyp HP:0012737 & Small intestinal hamartoma HP:0034793

Bug description

NCI thesaurus says these are synonyms: C36206 https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36206 As a result UMLS maps them to the same CUI. If they are not the same concept, please explain the conceptual difference and I will follow up with UMLS.

pnrobinson commented 1 month ago

@kanems Not all small instestinal polyps are hamartomas, but some are. I will update the definitions in the HPO to make this clearer.

kanems commented 1 month ago

Thanks, Peter. I will follow up with UMLS and ask them to not mix these two HPO concepts.