Validation of algorithms to determine incidence of Hirschsprung disease in Ontario, Canada: a population-based study using health administrative data

Figures & data

Figure 1 Flow diagram of chart review process at CHEO. Patients diagnosed with HD (true-positive reference standard) were treated by corrective surgery using the Soave, Swenson, or Duhamel method.

Abbreviations: CHEO, Children’s Hospital of Eastern Ontario; HD, Hirschsprung disease.

Table 1 Algorithm validation

	Algorithm	Sensitivity (95% CI)	Specificity (95% CI)	PPV (95% CI)	NPV (95% CI)
1	Hospitalization with HD in any fielda	95.65 (85.16, 99.47)	>99.99 (99.99, 100.00)	62.86 (50.48, 74.11)	>99.99 (99.99, 100.00)
2	Hospitalization with HD in any fielda + surgery/biopsy	93.48 (82.10, 98.63)	>99.99 (99.99, 100.00)	84.31 (71.41, 92.98)	>99.99 (99.99, 100.00)
3	Hospitalization with HD in any fielda + surgery (no biopsy)	15.22 (6.34, 28.87)	>99.99 (99.99, 100.00)	87.50 (47.35, 99.68)	>99.99 (99.99, 100.00)
4	Hospitalization with HD in any field as TRUE diagnosisb, do not include suspect/questionable diagnosisc	95.65 (85.16, 99.47)	>99.99 (99.99, 100.00)	83.02 (70.20, 91.93)	>99.99 (99.99, 100.00)
5	Hospitalization with HD in any field as TRUE diagnosisb, include suspect/questionable diagnosisc	95.65 (85.16, 99.47)	>99.99 (99.99, 100.00)	63.77 (51.31, 75.01)	>99.99 (99.99, 100.00)
6	Hospitalization with HD in any field as TRUE diagnosisb, do not include suspect/questionable diagnosisc + surgery/biopsy	93.48 (82.10, 98.63)	>99.99 (99.99, 100.00)	89.58 (77.34, 96.53)	>99.99 (99.99, 100.00)
7	Hospitalization with HD in any field as TRUE diagnosisb, do not include suspect/questionable diagnosisc + surgery (no biopsy)	15.22 (6.34, 28.87)	>99.99 (99.99, 100.00)	87.50 (47.35, 99.68)	>99.99 (99.99, 100.00)
8	Any outpatient OHIP code (751) within first year of life	58.70 (43.23, 73.00)	99.78 (99.75, 99.81)	10.80 (7.24, 15.32)	>99.99 (99.99, 100.00)
9	Any outpatient OHIP code (751) within the first 2 years of life	65.22 (49.75, 78.65)	99.75 (99.72, 99.78)	10.49 (7.19, 14.64)	>99.99 (99.99, 100.00)
10	Any 2+ outpatient OHIP codes (751) within first year of life (on separate days)	47.83 (32.89, 63.05)	99.86 (99.84, 99.88)	13.50 (8.66, 19.72)	>99.99 (99.99, 100.00)
11	Any 2+ outpatient OHIP codes (751) within first 2 years of life (on separate days)	58.70 (43.23, 73.00)	99.84 (99.81, 99.86)	14.06 (9.48, 19.80)	>99.99 (99.99, 100.00)

Notes:

a Any hospitalization associated with ICD-9/10 code for HD in any field.

b Any hospitalization associated with ICD-9/10 code for HD as “true” diagnosis.

c The CIHI-DAD includes a “suspected” variable (INCLSUSPECT) which indicates that the diagnosis is suspected, not confirmed. ICES uses a macro that enables the algorithm to either include (INCLSUSPECT=T) or exclude (INCLSUSPECT=F) suspect/questionable diagnosis. Bold indicates the algorithm was that was applied to the data to create the final HD cohort.

Abbreviations: CI, confidence interval; CIHI-DAD, Canadian Institute for Health Information - Discharge Abstract Database; HD, Hirschsprung disease; ICD, International Classification of Diseases; ICES, Institute for Clinical Evaluative Sciences; NPV, negative predictive value; OHIP, Ontario Health Insurance Plan; PPV, positive predictive value.

Table 2 General characteristics of the Ontario cohort (n = 679) identified as having HD by the selected algorithm

Characteristic		N (%)
Sex	Male	512 (75.41)
	Female	167 (24.59)
Age at diagnosis (years)	<1	613 (90.28)
	1–2	29 (4.27)
	2–3	17 (2.50)
	3–4	6 (0.88)
	≥4	14 (2.06)
Household at diagnosis	Rural	86 (12.67)
	Urban	589 (86.75)
Rectal suction biopsies per patient	0	140 (20.62)
	1	444 (65.39)
	2	77 (11.34)
	3	11 (1.62)
	≥4	7 (1.03)
Intervention	No surgery (biopsy only)	86 (12.67)
	Soave	100 (14.73)
	Duhamel	88 (12.96)
	Other	405 (59.65)

Abbreviation: HD, Hirschsprung disease.

Figure 2 Trends in crude incidence of HD in patients <18 years of age in Ontario over time.

Abbreviation: HD, Hirschsprung disease.

Table 3 Literature review of estimates of HD

Authors	Year	Location	Incidence rate
Althoff^Citation33	1945–1967	Bremen, Germany	1/12,000
Bodian and Carter^Citation34	1948–1959	England	1/2,000–1/10,000
Passarge^Citation25	1948–1966	Cincinnati, USA	1/5,000
Orr and Scobie^Citation22	1953–1982	Southeast Scotland	1/1,450
Russell et al^Citation6	1960–1964	Denmark	1/7,634
	1965–1969		1/7,576
	1970–1974		1/7,937
	1975–1979		1/5,714
			Overall = 1/7,165
Madsen^Citation23	Unclear (published in 1964)	Denmark	1/4,700
Spouge and Baird^Citation3	1964–1982	British Columbia, Canada	1/4,417
Goldberg^Citation26	1969–1971	Baltimore, USA	1/5,322
	1972–1974		1/5,806
	1975–1977		1/6,142
			Overall = 1/5,692
Kleinhaus et al^Citation24	1975–1976	USA	1/5,257
Ikeda and Goto^Citation32	1978–1982	Japan	1/4,697
Suita et al^Citation7	1978–1982	Japan	1/4,697
	1988–1992		1/5,544
	1998–2002		1/5,343
Rajab et al^Citation4	1989–1994	Oman	1/3,070
Best et al^Citation8	1990–1994	North England	1/7,931
	1995–1999		1/7,237
	2000–2004		1/5,563
	2005–2008		1/4,368
			Overall = 1/6,129
Meza-Valencia et al^Citation21	1994–2002	USA-associated Pacific Islands	1/3,190
Singh et al^Citation31	1997–2000	Australia	1/7,165
Koh et al^Citation5	1998–2005	Tasmania	1/3,429
Torfs^Citation27	Unclear (abstract published in 1998)	California	White: 1/6,667
			Black: 1/4,761
			Hispanic: 1/10,000
			Asian: 1/3,571

Abbreviation: HD, Hirschsprung disease.

Figure S1 Trends in crude incidence of HD in patients <1 year of age in Ontario over time.

Abbreviation: HD, Hirschsprung disease.

Table S1 Diagnostic codes for HD from CIHI-DAD and OHIP

Condition/procedure	Data source	Relevant entries
CIHI – diagnostic codes to identify HD
ICD-9 (1988–2001)	Dxcode1–16	7513 = Hirschsprung disease
ICD-10 (2002–2013)	Dx10code1–25	Q431 = Hirschsprung disease
OHIP – diagnostic codes to identify HD
OHIP (1991–2013)	Dxcode	751 = Hirschsprung megacolon, congenital malformation of the digestive system

Abbreviations: CIHI-DAD, Canadian Institute for Health Information - Discharge Abstract Database; HD, Hirschsprung disease; ICD, International Classification of Diseases; OHIP, Ontario Health Insurance Plan.

Table S2 Procedure codes related to HD from CIHI-DAD and OHIP

Condition/procedure	Data source	Combination of codes
CIHI – procedure codes
Soave	Cprcode1–20 (2002 onward)	6031 = Soave submucosal resection of the rectum
	Prcode1–10 (1988–2001)
	Sprcode1–8 (1988–2001)
Duhamel	Cprcode1–20 (2002 onward)	6054 = Duhamel resection
	Prcode1–10 (1988–2001)
	Sprcode1–8 (1988–2001)
Unspecified	Cprcode1–20 (2002 onward)	603 = Pull-through resection of the rectum
	Prcode1–10 (1988–2001)	6039 = Other pull-through resection of the rectum
	Sprcode1–8 (1988–2001)
Miscellaneous	Cprcode1–20 (2002 onward)	60 = Operations on rectum and perirectal tissue
	Prcode1–10 (1988–2001)	600 = Proctotomy
	Sprcode1–8 (1988–2001)	601 = Proctostomy
		602 = Local excision or destruction of lesion
		6021 = Fulguration of rectal lesion or tissue
		6022 = Destruction of rectal lesion or tissue B
		6023 = Destruction of rectal lesion or tissue B
		6024 = Local excision of rectal lesion or tissue
		604 = Abdominoperineal resection of rectum
		605 = Other resection of rectum
		6051 = Anterior resection with concomitant colon
		6052 = Other anterior resection
		6053 = Posterior resection
		6055 = Hartmann resection
		6059 = Other resection of rectum NEC
		606 = Repair of rectum
		6061 = Suture of rectum
		6062 = Closure of proctostomy
		6063 = Closure of other rectal fistula
		6064 = Rectorectostomy
		6065 = Abdominal proctopexy
		6066 = Other proctopexy
		6069 = Other repair of rectum
		607 = Incision or excision of perirectal tissue
		6071 = Incision of perirectal tissue
		6072 = Excision of perirectal tissue
		6084 = Operative (transabdominal) proctosigmoid
		6089 = Other invasive diagnostic procedures on
		609 = Other operations on rectum and perirectal
		6091 = Incision of rectal stricture
		6092 = Anorectal myectomy
		6093 = Repair of perirectal fistula
		6094 = Freeing of (intraluminal) adhesions of rectum
		6099 = Other operations on rectum and perirectal
Incode miscellaneous	Incode1–20 (2002 onward)	1NQ87 = Excision partial, rectum
		1NQ87BA = Excision partial, rectum endoscopic per orifice approach closure by apposition technique (e.g. suturing, stapling) or no closure required (for tissue regeneration)
		1NQ87BAFA = Excision partial, rectum endoscopic per orifice approach encirclage device
		1NQ87CA = Excision partial, rectum perineal (e.g. pull through, transanal, sacral or sphincteric) approach closure by apposition technique (e.g. suturing, stapling) or no closure required (for tissue regeneration)
		1NQ87DA = Excision partial, rectum endoscopic (laparoscopic, laparoscopic-assisted, hand-assisted) approach closure by apposition technique (e.g. suturing, stapling) or no closure required (for tissue regeneration)
		1NQ87DE = Excision partial, rectum endoscopic (laparoscopic, laparoscopic-assisted, hand-assisted) approach colorectal anastomosis technique
		1NQ87DF = Excision partial, rectum endoscopic (laparoscopic) approach colorectal anastomosis technique
		1NQ87DX = Excision partial, rectum endoscopic (laparoscopic, laparoscopic-assisted, hand-assisted) approach stoma formation with distal closure
		1NQ87LA = Excision partial, rectum open abdominal (e.g. anterior) approach closure by apposition technique (e.g. suturing, stapling) or no closure required (for tissue regeneration)
		1NQ87PB = Excision partial, rectum perineal (e.g. pull through, transanal, sacral or sphincteric) approach colorectal anastomosis technique
		1NQ87PF = Excision partial, rectum posterior (e.g. entering through incision between coccyx and anal verge with proctotomy) approach closure by apposition technique (e.g. suturing, stapling) or no closure required (for tissue regeneration)
		1NQ87PN = Excision partial, rectum endoscopic (laparoscopic, laparoscopic-assisted, hand-assisted) approach robotic assisted telemanipulation of tools (telesurgery)
		1NQ87RD = Excision partial, rectum open abdominal (e.g. anterior) approach colorectal anastomosis technique
		1NQ87TF = Excision partial, rectum open abdominal approach (e.g. anterior) stoma formation with distal closure
		1NQ89 = Excision total, rectum
		1NQ89AB = Excision total, rectum, stoma formation with distal closure, combined endoscopic (laparoscopic) abdominoperineal approach
		1NQ89GV = Excision total, rectum combined endoscopic (abdominal) with perineal approach coloanal anastomosis technique
		1NQ89KZ = Excision total, rectum abdominoperineal approach coloanal anastomosis technique
		1NQ89KZXXG = Excision total, rectum abdominoperineal approach pouch formation
		1NQ89LH = Excision total, rectum abdominoperineal approach stoma formation with distal closure
		1NQ89LHXXG = Excision total, rectum abdominoperineal approach continent ileostomy formation
		1NQ89RS = Excision total, rectum abdominal (anterior) approach stoma formation with distal closure
		1NQ89RSXXG = Excision total, rectum abdominal (anterior) approach continent ileostomy formation
		1NQ89SF = Excision total, rectum abdominal (anterior) approach coloanal anastomosis technique
		1NQ89SFXXG = Excision total, rectum abdominal (anterior) approach pouch formation
		1NQ90 = Excision total with reconstruction, rectum
		1NQ90LAXXG = Excision total with reconstruction, rectum using open approach with ileum (for construction of pouch)
Rectal suction	Prcode1–10 (1988–2001)	6081 = Brush biopsy of rectum
		6082 = Other biopsy of rectum
		6083 = Biopsy of perirectal tissue
	Cprcode1–20 (2002 onward)	608 = Invasive diagnostic procedures on rectum
		6081 = Brush biopsy of rectum
		6082 = Other biopsy of rectum
	Incode1–20 (2002 onward)	2NQ = Diagnostic interventions on the rectum
		2NQ71 = Biopsy, rectum
		2NQ71BA = Biopsy, rectum using endoscopic per orifice approach
		2NQ71BG = Biopsy, rectum using endoscopic per orifice rectal suction
		2NQ71BR = Biopsy, rectum using endoscopic per orifice with brush biopsy or washing
		2NQ71CA = Biopsy, rectum per orifice approach NOS
		2NQ71DA = Biopsy, rectum using endoscopic (laparoscopic) approach
		2NQ71HA = Biopsy, rectum using percutaneous (needle) approach (e.g. core needle biopsy)
		2NQ71LA = Biopsy, rectum using open approach

Notes: In 1988–2001 data, multiple variables contain required info (Prcode1–10, Sprcode1–8). If present, use only Prcode1–10 as the variables. Use Sprcode1–8 as a back-up if not present in Prcode1–10.

Abbreviations: CIHI-DAD, Canadian Institute for Health Information - Discharge Abstract Database; OHIP, Ontario Health Insurance Plan; NEC, not elsewhere classified; NOS, not otherwise specified.

Table S3 Annual crude incidence of HD in Ontario residents <18 years of age

Year	Number of incident cases	Number of live births	Incidence per 10,000 live births	95% LCL	95% UCL
1991	17	173,578	0.979	0.571	1.568
1992	25	157,367	1.589	1.028	2.345
1993	29	151,381	1.916	1.283	2.751
1994	45	151,724	2.966	2.163	3.969
1995	27	148,783	1.815	1.196	2.64
1996	36	141,785	2.539	1.778	3.515
1997	24	138,615	1.731	1.109	2.576
1998	39	136,481	2.858	2.032	3.906
1999	42	136,410	3.079	2.219	4.162
2000	38	132,472	2.869	2.030	3.937
2001	28	136,760	2.047	1.360	2.959
2002	22	135,087	1.629	1.021	2.466
2003	28	139,765	2.003	1.331	2.895
2004	29	139,847	2.074	1.389	2.978
2005	29	141,087	2.055	1.377	2.952
2006	28	143,432	1.952	1.297	2.821
2007	34	146,653	2.318	1.606	3.24
2008	22	145,824	1.509	0.945	2.284
2009	34	135,629	2.507	1.736	3.503
2010	40	143,295	2.791	1.994	3.801
2011	17	144,440	1.177	0.686	1.884
2012	24	143,620	1.671	1.071	2.486
2013	22	141,380	1.556	0.975	2.356

Abbreviations: HD, Hirschsprung disease; LCL, lower confidence limit; UCL, upper confidence limit.

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