Laboratory Tests

Laboratory Tests (1,150 unique) Mapped LOINC terms to Human Phenotype Ontology concepts. Clinically abnormal lab values were determined by comparing each lab result with respect to the specified reference range. Only those labs where a valid numeric result and low/high reference were present were considered for mapping Approach: Created an initial mapping of subset all unique labs to a set of HPO concepts using the EBI’s Ontology Lookup Service (September 2018) Wrote a Qualtrics survey where each question featured a lab test and set of reasonable values it could be mapped to The survey was completed by 3 pediatric clinicians, a PhD-level biologist, and a masters level epidemiologist (October-December, 2019) Mappings where there was not an agreement between at least 1 clinician and both the biologist/epidemiologist were re-evaluated with 1 clinician (January 2019) Mappings were compared to LOINC2HPO annotations (January 2019) All unique LOINC term mappings will be verified by a professional ontologist