Table 1 The numbers of existing concepts, qualified newly generated concepts, potentially missing concepts, and missing concepts validated via UMLS, concept position supporting evidence found and missing concepts validated via PubMed for each sub-hierarchy under “Disease or Disorder” in the NCI Thesaurus
Sub-hierarchy | # of Existing concepts | # of Newly formalized concepts | ||||
|---|---|---|---|---|---|---|
# of Qualified newly formalized concepts | # of Potentially missing concepts | # of Validated via UMLS | # of Position support in UMLS | # of Validated via PubMed | ||
C35470: Behavioral Disorder | 49 | 4 | 2 | 0 | 0 | 0 |
C8278: Cancer-Related Condition | 578 | 43 | 41 | 1 | 1 | 7 |
C27551: Disorder by Site | 13,595 | 984 | 900 | 32 | 12 | 123 |
C3101: Genetic Disorder | 159 | 8 | 8 | 0 | 0 | 7 |
C3075: Hamartoma | 63 | 4 | 4 | 0 | 0 | 3 |
C3113: Hyperplasia | 81 | 7 | 6 | 1 | 1 | 4 |
C3262: Neoplasm | 10,996 | 1355 | 1199 | 46 | 17 | 222 |
C53529: Non-Neoplastic Disorder | 4198 | 119 | 112 | 22 | 7 | 43 |
C89328: Pediatric Disorder | 528 | 23 | 15 | 0 | 0 | 3 |
C3340: Polyp | 110 | 5 | 4 | 2 | 0 | 1 |
C2893: Psychiatric Disorder | 231 | 4 | 4 | 1 | 1 | 0 |
C4873: Rare Disorder | 915 | 21 | 21 | 3 | 2 | 13 |
C28193: Syndrome | 907 | 68 | 65 | 10 | 4 | 42 |