Table 3.
Examples of missing IS-A relations confirmed by domain experts
| Subtype concept | Supertype concept | Source terminology |
|---|---|---|
| Abrasion and/or friction burn of buttock with infection (disorder) | Superficial injury of buttock with infection (disorder) | SNOMEDCT_US |
| Camptodactyly of right hand (disorder) | Congenital deformity of right hand (disorder) | SNOMEDCT_US |
| Acute gastrojejunal ulcer with hemorrhage AND with perforation but without obstruction (disorder) | Peptic ulcer with hemorrhage AND with perforation but without obstruction (disorder) | SNOMEDCT_US |
| Malignant melanoma of skin of forearm (disorder) | Malignant neoplasm of skin of forearm (disorder) | SNOMEDCT_US |
| Deficiency of adenosylhomocysteinase (disorder) | Deficiency of hydrolase (disorder) | SNOMEDCT_US |
| Infestation caused by Boophilus (disorder) | Infestation caused by Ixodidae (disorder) | SNOMEDCT_US |
| Abscess of nasal septum (disorder) | Inflammatory disorder of cartilage (disorder) | SNOMEDCT_US |
| Obsessive compulsive disorder caused by cocaine (disorder) | Anxiety disorder caused by stimulant (disorder) | SNOMEDCT_US |
| Primary malignant neoplasm of frontal lobe (disorder) | Malignant neoplasm of cerebral cortex (disorder) | SNOMEDCT_US |
| Rupture of anterior cruciate ligament of left knee (disorder) | Injury of cruciate ligament of knee (disorder) | SNOMEDCT_US |
| negative regulation of testosterone biosynthetic process | negative regulation of steroid hormone biosynthetic process | GO |
| macrophage migration inhibitory factor binding | enzyme binding | GO |
| response to camptothecin | response to topoisomerase inhibitor | GO |
| formate dehydrogenase complex | oxidoreductase complex | GO |
| negative regulation of transmembrane | negative regulation of cellular process | GO |
GO: Gene Ontology; SNOMEDCT_US: SNOMED CT (U.S. version).