Table 2.
Select examples of differences between the HPO-phecode map and HPO-ICD map
| HPO term ID | HPO term name | Phecode | Included in both | HPO-phecode only | HPO-ICD only |
|---|---|---|---|---|---|
| 1508 | Failure to thrive | (264.2) Failure to thrive (childhood) | (783.41/R62.51) Failure to thrive (child) | None | (779.34/P92.6) Failure to thrive in newborn |
| (783.7/R62.7) Adult failure to thrive | |||||
| 2099 | Asthma | (495) Asthma | (493*/J45*) Asthma | None | (E945.7) Adverse effects of antiasthmatics in therapeutic use |
| (T48.6X6*) Underdosing of antiasthmatics | |||||
| 2110 | Bronchiectasis | (496.3) Bronchiectasis | (494*/J47*) Bronchiectasis | None | (011.5*) Tuberculous bronchiectasis |
| (748.61/Q33.4) Congenital bronchiectasis | |||||
| 1738 | Exocrine pancreatic insufficiency | (577) Diseases of pancreas | (577.8) Other specified diseases of pancreas | (577.2/K86.2) Cyst of pancreas | None |
| (K86.81) Exocrine pancreatic insufficiency | + 5 ICD-9 codes & 34 ICD-10 codes | ||||
| 4401 | Meconium ileus | (656.6) Perinatal disorders of digestive system | (777.1) Meconium obstruction in fetus or newborn | None | (777.5*/P77*) Necrotizing enterocolitis in newborn |
| (P76.0) Meconium plug syndrome | (777.6/P78.0) Perinatal intestinal perforation |
This table contains 5 of the HPO terms used to describe cystic fibrosis. Each HPO term has a corresponding phecode from the HPO-phecode map. Each phecode contains 1 or more ICD code. The ICD codes that were included in both the HPO-phecode map and HPO-ICD map are listed, as well as the ICD codes that are exclusive to a single map.
HPO: Human Phenotype Ontology; ICD: International Classification of Diseases.