Table 2. Vocabulary compatibility assessment results.
Biochemical (no. phenotypes mapped) | Clinical (no. phenotypes mapped) | Total (no. phenotypes mapped) | |
---|---|---|---|
HPO | 0 | 450 | 450 |
ICD 10 | 6 | 92 | 98 |
SNOMED CT | 371 | 389 | 760 |
MeSH | 324 | 283 | 607 |
ChEBI | 301 | 3 | 304 |
LOINC | 367 | 61 | 428 |
ChEBI, Chemical Entities of Biological Interest; HPO, Human Phenotype Ontology; ICD 10, International Classification of Diseases, 10th revision; LOINC, Logical Observation Identifiers Names and Codes; MeSH, Medical Subject Headings; SNOMED CT, Systematized Nomenclature of Medicine–Clinical Terms.
Total number of biochemical phenotypes in IEMbase is 1,123. Total number of clinical phenotypes in IEMbase is 1,200. Total number of phenotypes in IEMbase is 2,323.