HPO to SNOMED mapping - the objectives
The objectives was to produce a mapping with a fully logically defined product so that if a direct map to a SNOMED concept was not available, an expression was constructed using Compositional Grammar and post-coordination.
HPO to SNOMED Cross Mapping - the results
Based on the HPO release of August 2024, and the SNOMED International release of April 2024, the mapping results are given below.
| Group | Number (%) |
|---|---|
| One to one map | 7184 (41% |
| One to many | 81 (0.5%) |
| Map with expression | 7833 (45%) |
| Map to parent | 2338 (13.4%) |
| Clarification | 22 (0.1%) |
| Out of scope | 685 (3.9) |
| Total | 18,370 |
Examples of post-coordination
1 | HP:0001525 Severe failure to thrive | 54840006 |Failure to thrive (disorder)|: {246112005 |Severity (attribute)|=24484000 |Severe (severity modifier) (qualifier value)|} | approx (45%) |
2 | HP:0010802 Perioral hyperpigmentation. | 423066003 |Finding of mouth region (finding)|: {363698007 |Finding site (attribute)|=110488009 |Skin of perioral region of face (body structure)|, 116676008 |Associated morphology (attribute)|=4830009 |Hyperpigmentation (morphologic abnormality)|} | |
3 | HP:0004363 Abnormal circulating calcium concentration. | 1217344005 |Finding of blood substance level (finding)|: {363713009 |Has interpretation (attribute)| =394844007 |Outside reference range (qualifier value)|, 363714003 |Interprets (attribute)| =312472004 |Blood calcium measurement (procedure)|} | approx 30% |
4 | HP:6000554 Positive bloodstream plasmodium falciparum nucleic acid pathogen test. | 434156008 |Infectious agent in bloodstream (finding)|: {363713009 |Has interpretation (attribute)| = 10828004 |Positive (qualifier value)|, 363714003 |Interprets (attribute)| = (398545005 |Nucleic acid assay (procedure)|: 246093002 |Component (attribute)| =708396002 |Deoxyribonucleic acid of Plasmodium falciparum (substance)|, 370129005 |Measurement method (attribute)|=444077007 |Analysis using reverse transcriptase polymerase chain reaction technique (procedure)|)} | 637 (8%) |
5 | HP:0004880 Respiratory infections in early life | 275498002 |Respiratory tract infection (disorder)|: {246454002 |Occurrence (attribute)|=713152004 |Early childhood (qualifier value)|}, {263502005 |Clinical course (attribute)|=255227004 |Recurrent (qualifier value)|} | <7% |