Hyperoxaluria, Diagnosed

This concept set contains diagnosis codes for or potentially indicative of primary hyperoxaluria. The concept set was developed as inclusion criteria for the cohort of patients in PEDSnet with primary hyperoxaluria. Since the disease is ultra rare, the codeset was designed to be broad to minimize the risk of missing potential candidates for the study (i.e. false negatives). Broad code was included in the codeset, disorder of carbohydrate metabolism, after examination of source values for patients prior to the introduction of specific codes for PH and required that for patients to be included to have at least 2 diagnoses in addition to a diagnosis of kidney stones, as the code itself could have even broader implications. The codeset was developed using string searching for SNOMED codes containing "oxal" and further refining based on the returned codes. We also added in the disorder of carbohydrate metabolism code after searching for PH-related terms in the condition source values in PEDSnet. This concept set is limited to SNOMED diagnosis codes.