. 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 K_pheWAS and K_mvBSC 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	K_pheWAS	K_mvBSC	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