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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

From: Identification of missing concepts in biomedical terminologies using sequence-based formal concept analysis

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