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. Author manuscript; available in PMC: 2020 May 31.
Published in final edited form as: J Biomed Inform. 2019 Oct 28;100:103322. doi: 10.1016/j.jbi.2019.103322

Table 1:

grouping result summary. Basic information on each specific disease category under consideration is displayed in the first two columns. The roll-up column indicates the level of hierarchy with 0 indicating no rollup, 1 indicating rollup once and 2 indicating rollup twice. The KpheWAS and KmvBSC columns indicate the total number of groups suggested by PheWAS and by mvBSC at each hierarchy level. The last three columns summarize the similarity evaluation to PheWAS groupings by NMI, ARI, F1-measure.

Disease Category ICD Category # of codes (# w/ PheCode) Roll-up KpheWAS KmvBSC NMI ARI F1
(1) Certain infectious and parasitic diseases A00–B99 849 (828) 0 77 180 0.74 0.22 0.27
1 70 58 0.70 0.40 0.44
2 34 44 0.70 0.51 0.54
(2) Malignant neoplasms C00-C97 1081 (1081) 0 83 86 0.87 0.49 0.52
1 70 70 0.89 0.58 0.61
2 34 28 0.84 0.68 0.71
(3) Blood and blood-forming organs and certain disorders involving the immune mechanism D50–D89 243 (241) 0 66 68 0.85 0.45 0.56
1 49 48 0.84 0.54 0.61
2 22 13 0.73 0.65 0.69
(4) Mental and behavioral disorders F00–F99 843 (840) 0 62 132 0.73 0.17 0.20
1 53 22 0.73 0.62 0.67
2 24 21 0.73 0.66 0.72
(5) Nervous system G00–G99 748 (748) 0 89 124 0.82 0.38 0.43
1 80 64 0.86 0.62 0.65
2 48 39 0.87 0.71 0.73
(6) Eye and adnexa H00–H59 1096 (1092) 0 100 100 0.79 0.44 0.48
1 85 58 0.81 0.51 0.54
2 30 36 0.80 0.64 0.66
(7) Ear and mastoid process H60–H95 458 (452) 0 31 36 0.76 0.58 0.62
1 29 22 0.76 0.67 0.70
2 14 6 0.75 0.62 0.69
(8)Circulatory diseases I00–I25 208 (182) 0 26 28 0.80 0.50 0.56
1 22 14 0.81 0.68 0.73
2 8 4 0.89 0.92 0.95
(9) Digestive system K00–K93 827 (782) 0 149 148 0.84 0.48 0.53
1 131 79 0.85 0.58 0.62
2 56 38 0.85 0.74 0.76
(10) Skin and subcutaneous tissue L00–L99 738 (738) 0 84 145 0.77 0.47 0.50
1 77 120 0.78 0.72 0.74
2 38 84 0.70 0.53 0.58
(11) Arthropathies M00–M25 1374 (1369) 0 59 114 0.83 0.43 0.45
1 52 62 0.82 0.51 0.53
2 18 16 0.79 0.65 0.70
(12) Genitourinary system N00–N99 685 (676) 0 149 155 0.84 0.38 0.46
1 118 70 0.84 0.45 0.50
2 51 69 0.81 0.44 0.48
(13) Pregnancy, childbirth and the puerperium O00–O99 608 (603) 0 52 128 0.78 0.33 0.39
1 52 66 0.79 0.45 0.50
2 39 64 0.77 0.42 0.47