Implications of mappings between International Classification of Diseases clinical diagnosis codes and Human Phenotype Ontology terms.
Integrating electronic health record (EHR) data with other resources is essential in rare disease research due to low disease prevalence. Such integration is dependent on the alignment of ontologies used for data annotation. The international classification of diseases (ICD) is used to annotate clinical diagnoses, while the human phenotype ontology (HPO) is used to annotate phenotypes. Although these ontologies overlap in the biomedical entities they describe, the extent to which [...]
Author(s): Tan, Amelia L M, Gonçalves, Rafael S, Yuan, William, Brat, Gabriel A, Gentleman, Robert, Kohane, Isaac S, ,
DOI: 10.1093/jamiaopen/ooae118