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Congenital absence, atresia and stenosis of large intestine

DOID Endpoint Browser PheWeb

Q17_CONGEN_ABSENCE_ATRES_STENO_LARGE_INTESTINE

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — Q42
  • Cause of death: ICD-10 — Q42

2 out of 7 registries used, show all original rules.

54

4. Check minimum number of events

None

54

5. Include endpoints

None

54

6. Filter based on genotype QC (FinnGen only)

51

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q3[8-9]|Q4[0-5]
Name in latin
Agenesis/aplasia intestini crassi

Similar endpoints

↥

List of similar endpoints to Congenital absence, atresia and stenosis of large intestine based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1055 473 581
Only index persons 745 338 407
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.02
Only index persons 0.01 0.01 0.02
Median age at first event (years)
Whole population 0.19 0.33 0.05
Only index persons 0.77 0.86 0.69

-FinnGen-

Key figures

All Female Male
Number of individuals 51 27 24
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 9.19 14.78 2.90

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
54
Matched controls
540
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q42.2
ICD-10 Finland
Congenital absence, atresia and stenosis of anus with fistula
+∞
28.7
25
*
Q42.3
ICD-10 Finland
Congenital absence, atresia and stenosis of anus without fistula
+∞
26.2
23
*
Q42.0
ICD-10 Finland
Congenital absence, atresia and stenosis of rectum with fistula
+∞
21.2
19
*
ZXE10
NOMESCO Finland
More than one and less than three hours
9.0
14.8
36
98
UKC02
NOMESCO Finland
Cystoscopy
22.0
14.3
21
15
JFF26
NOMESCO Finland
Sigmoidostomy
+∞
14.2
13
*
JHD00
NOMESCO Finland
Anal dilatation
+∞
14.2
13
*
ZXD05
NOMESCO Finland
Urgent procedure
8.2
13.9
32
81
WX404
NOMESCO Finland
Intravenous generell anesthesy
8.1
13.6
33
88
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
8.2
13.6
28
63
KC1JB
NOMESCO Finland
Miktiocystography with X-ray
+∞
13.0
12
*
J01EA01
ATC
trimethoprim; systemic
8.0
12.6
24
49
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
7.4
10.9
21
43
WX402
NOMESCO Finland
General anaesthesia
6.5
10.8
29
82
ZXE20
NOMESCO Finland
More than three and less than five hours
10.8
10.8
22
32
JGC40
NOMESCO Finland
Anorectal repair of anal atresia
+∞
10.8
10
*
JFG10
NOMESCO Finland
Closure of loop colostomy without resection
+∞
10.8
10
*
ZXE00
NOMESCO Finland
One hour or less
7.2
10.7
40
153
ZXD10
NOMESCO Finland
Scheduled procedure
6.7
10.5
37
133
TJF80
NOMESCO Finland
Ostomy education
50.2
10.5
12
*
WX408
NOMESCO Finland
General anesthesy, balanced
6.0
9.8
32
106
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
12.2
9.8
18
21
Q87.26
ICD-10 Finland
VATER association
+∞
9.7
9
*
AB4AE
NOMESCO Finland
Spinal ultrasound examination
+∞
9.7
9
*
TPH04
NOMESCO Finland
Cathetrisation of vein
6.6
9.5
20
44
XKC03
NOMESCO Finland
Water cystometry
45.0
9.4
11
*
TPH07
NOMESCO Finland
Cathetrisation of artery
10.2
9.3
19
27
WX302
NOMESCO Finland
Thoracal epidural anesthesy
60.1
9.0
10
*
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
18.5
8.7
13
9
N39.0
ICD-10 Finland
Urinary tract infection, site not specified
8.9
8.6
19
31
Q42.1
ICD-10 Finland
Congenital absence, atresia and stenosis of rectum without fistula
+∞
8.5
8
*
Q43.5
ICD-10 Finland
Ectopic anus
+∞
8.5
8
*
J01MA02
ATC
ciprofloxacin; systemic
5.5
8.4
23
64
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
11.7
8.2
15
17
KA1MN
NOMESCO Finland
Glomerular filtration rate (GFR) Isotope mesurement
22.5
8.0
11
6
SPAT1262
SPAT
Handing over of treatment supplies
11.1
8.0
15
18
Z2221
NOMESCO Finland
Medical doctor
4.9
7.6
27
92
Q62.7
ICD-10 Finland
Congenital vesico-uretero-renal reflux
92.2
7.6
8
*
KC1EE
NOMESCO Finland
Ultrasound measurement of residual urine
12.7
7.5
13
13
N18.8
ICD-10 Finland
Other chronic renal failure
+∞
7.5
7
*
JF2AB
NOMESCO Finland
Colongraphy with X-ray
+∞
7.5
7
*
75120
ICD-8 Finland
Other congenital anomalies of digestive system, Atresia ani inferioris cum fistula
+∞
7.5
7
*
204
Kela drug reimbursment
Leukemia lymphatica
35.2
7.4
9
*
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
20.0
7.0
10
6
XKD00
NOMESCO Finland
Uroflowmetry
11.0
7.0
13
15
JAH01
NOMESCO Finland
Laparoscopy
46.0
7.0
8
*
K56.6
ICD-10 Finland
Other and unspecified intestinal obstruction
46.0
7.0
8
*
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
21.1
6.5
9
5
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
4.7
6.5
20
60
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.2
6.4
29
116
TKC10
NOMESCO Finland
Percutaneous puncture of bladder
+∞
6.4
6
*
75121
ICD-8 Finland
Other congenital anomalies of digestive system, Atresia ani inferioris, fistula non indicata
+∞
6.4
6
*
TKC22
NOMESCO Finland
Catheterisation instruction
+∞
6.4
6
*
Q42.9
ICD-10 Finland
Congenital absence, atresia and stenosis of large intestine, part unspecified
+∞
6.4
6
*
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
6.4
6.3
17
36
WX002
NOMESCO Finland
Sedation and analgesia
7.3
6.3
15
27
Z3231
NOMESCO Finland
Registered nurse
4.2
6.3
30
125
K59.0
ICD-10 Finland
Constipation
9.9
6.2
12
15
TJD20
NOMESCO Finland
Change of gastrostomy tube
17.6
6.1
9
6

LabWAS

↥
OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
23
43
8.58
13.17
3.3
2.0
—
—
—
0
0
20
43
6.80
9.76
12.0
16.0
106.30
104.77
mmol/l
0.92
20
43
34
121
5.89
9.55
8.4
3.2
—
—
—
0
0
22
55
6.06
9.14
37.1
9.5
5.85
4.70
mmol/l
0.72
22
55
39
162
6.07
8.98
7.3
3.5
—
—
estimate
—
0
0
27
83
5.51
8.87
22.6
4.3
—
—
—
0
0
36
144
5.50
8.55
16.3
3.2
—
—
estimate
—
0
0
30
105
5.18
8.35
8.7
2.4
—
—
—
0
0
25
84
4.68
7.13
12.9
2.2
429.84
599.91
mosm/kgh2o
3.60
25
69
27
99
4.45
6.82
12.4
2.3
3.26
6.71
e6/l
1.25
27
87
25
89
4.37
6.52
11.7
3.2
3.06
3.30
e6/l
0.04
18
45
33
146
4.24
6.35
17.7
3.2
0.12
0.35
e6/l
0.80
28
106
34
158
4.11
6.01
17.7
3.2
81.92
22.44
e6/l
0.37
29
120
37
189
4.04
5.56
21.1
3.9
18.11
26.34
e6/l
0.44
31
125
16
45
4.63
5.54
3.1
6.3
67.69
69.83
e9/l
—
10
29
32
151
3.75
5.36
26.7
8.1
35.22
37.66
g/l
1.80
32
145
11
17
7.82
5.08
4.4
1.7
—
—
—
0
0
20
72
3.82
4.95
24.6
9.5
0.79
0.80
mmol/l
0.26
20
67
10
14
8.48
4.91
1.8
22.1
88.46
71.39
%
—
10
14
20
75
3.65
4.63
3.1
1.7
—
—
—
0
0
10
17
6.95
4.37
13.5
32.8
96.90
95.15
%
—
10
17
10
17
6.95
4.37
13.5
32.6
0.64
0.76
%
—
10
17
22
91
3.39
4.35
29.5
12.6
—
—
—
0
0
19
72
3.53
4.30
7.8
6.7
31.26
30.93
s
0.12
19
72
14
43
4.05
4.25
11.2
21.2
1.10
1.25
mmol/l
0.39
14
43
34
185
3.26
4.24
7.4
2.9
6.31
6.32
ph
0.03
21
97
10
18
6.55
4.21
13.5
31.1
1.02
0.94
%
—
10
18
38
227
3.27
3.93
10.1
3.1
0.22
0.00
estimate
—
9
36
43
278
3.68
3.86
16.1
4.0
—
—
—
0
0
9
16
6.51
3.84
14.8
33.4
24.22
23.98
mmol/l
—
9
16
22
99
3.06
3.70
4.2
1.6
—
—
—
0
0
10
22
5.32
3.64
13.5
26.1
17.60
15.29
kpa
—
10
22
10
22
5.32
3.64
13.5
26.0
98.71
97.25
%
—
10
22
10
22
5.32
3.64
13.5
26.1
5.38
5.32
kpa
—
10
22
37
224
3.07
3.62
10.4
3.1
0.00
0.00
estimate
—
9
38
9
18
5.77
3.55
11.0
19.3
122.00
120.61
g/l
—
9
18
37
226
3.02
3.53
10.4
3.1
0.00
0.00
estimate
—
9
36
8
14
6.50
3.48
2.3
24.3
87.36
73.81
%
—
8
14
27
141
2.83
3.43
6.6
2.4
—
—
—
0
0
21
96
2.94
3.40
35.4
8.0
—
—
—
0
0
9
20
5.17
3.28
1.8
16.9
0.66
0.61
%
—
9
20
11
31
4.18
3.21
1.3
1.1
—
—
—
0
0
21
99
2.83
3.19
22.4
8.7
24.33
23.40
mmol/l
1.57
21
99
9
21
4.92
3.16
1.8
16.1
0.86
1.04
%
—
9
21
7
12
6.51
3.13
1.3
1.3
13.86
13.43
u/ml
—
7
12
24
124
2.68
3.04
12.9
5.2
1.03
1.07
inr
0.42
19
103
5
5
10.82
3.04
27.0
2.0
5.34
7.08
pmol/l
—
5
5
22
109
2.72
3.02
30.9
7.7
1.35
1.35
mmol/l
0.02
22
102
23
117
2.68
2.99
44.1
12.2
25.61
24.57
mmol/l
1.07
23
117
6
9
7.33
2.95
5.5
4.0
28.18
35.67
mmol/l
—
6
9
22
111
2.66
2.89
9.0
5.3
5.80
8.52
mmol/l
1.78
22
103
5
6
9.01
2.80
3.6
2.8
1.98
63.03
u/ml
—
5
6
6
10
6.58
2.77
1.0
1.0
1.66
1.31
g/l
—
6
10
34
218
2.51
2.65
22.6
10.4
—
—
—
0
0
20
100
2.59
2.65
21.1
9.0
4.93
5.09
kpa
0.23
20
100
12
46
3.07
2.56
2.4
2.3
—
—
—
0
0
10
33
3.48
2.51
2.8
1.3
—
—
—
0
0
41
292
2.68
2.49
23.9
9.7
0.75
0.58
e9/l
0.91
36
243
14
60
2.80
2.47
1.9
2.7
—
—
—
0
0
10
34
3.37
2.43
13.4
2.1
—
—
—
0
0
22
121
2.38
2.34
6.7
2.6
2.44
2.38
mmol/l
0.93
22
114
41
297
2.58
2.31
24.1
9.9
2.26
2.47
e9/l
0.49
36
254
20
107
2.38
2.25
10.3
3.3
0.00
0.00
estimate
—
9
36
40
290
2.46
2.20
24.4
9.7
0.03
0.04
e9/l
0.87
35
240
39
281
2.40
2.15
27.6
6.0
149.15
118.17
u/l
0.82
39
264
41
303
2.47
2.12
24.6
10.4
0.18
0.22
e9/l
1.01
36
258
8
26
3.43
2.11
3.1
1.8
15.00
27.08
ng/l
—
8
26
6
15
4.36
2.10
15.3
31.7
15.40
15.04
%
—
6
15
14
68
2.43
1.91
4.1
2.4
13.33
20.29
ng/l
—
9
31
25
159
2.07
1.78
8.8
2.7
0.00
0.00
estimate
—
9
32
8
32
2.75
1.67
3.4
1.2
—
—
—
0
0
8
33
2.67
1.61
1.5
1.6
—
—
—
0
0
28
195
1.91
1.48
14.8
6.8
—
—
—
0
0
6
22
2.94
1.48
8.7
1.8
56.17
53.13
%
—
6
22
23
150
1.93
1.48
2.2
1.7
—
—
—
0
0
13
69
2.16
1.43
1.5
1.5
—
—
—
0
0
6
23
2.80
1.41
7.2
6.1
32.00
40.91
umol/l
—
6
23
5
17
3.13
1.39
1.2
1.0
0.84
0.88
g/l
—
5
17
40
319
1.98
1.35
25.6
13.5
4.00
3.74
e9/l
0.21
35
269
9
44
2.25
1.34
2.9
1.6
516.22
436.41
pmol/l
—
9
37
5
18
2.95
1.31
1.8
1.5
—
—
—
0
0
13
72
2.06
1.29
1.6
1.4
125.01
434.42
u/ml
0.46
13
67
0
35
0.00
1.20
0.0
1.5
—
0.17
—
0
12
5
21
2.52
1.11
4.6
1.3
0.19
0.20
g/l
—
5
21
17
110
1.80
1.07
4.5
1.9
111.10
95.15
pmol/l
—
10
64
5
22
2.40
1.05
4.6
1.3
1.06
1.17
g/l
—
5
22
7
35
2.15
1.04
2.6
1.3
—
—
—
0
0
17
112
1.76
1.01
10.6
2.3
0.11
0.00
estimate
—
9
33
10
58
1.89
0.86
8.0
4.3
4.67
10.29
mg/mmol
—
10
43
15
100
1.69
0.84
1.7
1.7
—
—
—
0
0
35
292
1.56
0.77
27.5
11.1
0.00
0.00
e9/l
-0.00
28
222
9
58
1.66
0.74
4.0
2.8
3.46
4.07
e9/l
—
9
53
5
28
1.86
0.68
4.4
1.7
144.60
203.62
u/ml
—
5
13
15
106
1.57
0.67
20.1
6.0
—
—
—
0
0
12
165
0.65
0.58
2.3
2.0
—
—
—
0
0
49
457
1.78
0.50
51.1
11.1
66.35
59.78
umol/l
0.81
49
445
7
103
0.63
0.45
1.1
1.2
—
—
—
0
0
47
437
1.58
0.45
64.8
13.1
4.01
3.96
mmol/l
0.54
47
421
47
436
1.60
0.45
64.5
13.1
139.49
139.51
mmol/l
0.02
47
424
25
211
1.34
0.43
1.4
1.8
1.59
1.53
g/l
0.14
18
105
0
15
0.00
0.42
0.0
1.7
—
2.09
—
0
15
5
35
1.47
0.40
1.8
1.9
—
—
—
0
0
5
36
1.43
0.39
1.0
1.0
21.80
19.29
mmol/l
—
5
36
5
36
1.43
0.39
1.0
1.0
—
—
—
0
0
6
43
1.44
0.36
1.3
1.3
—
152.57
—
0
11
18
212
0.77
0.32
1.4
1.8
0.60
1.70
u/ml
—
5
32
8
65
1.27
0.29
1.5
1.3
—
35.71
—
0
14
33
356
0.81
0.24
5.3
4.1
14.30
14.77
pmol/l
0.55
33
335
5
38
1.35
0.24
5.4
1.6
2.51
2.42
mmol/l
—
5
33
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
13
0.00
0.21
0.0
7.5
—
—
—
0
0
13
145
0.86
0.11
3.1
2.3
—
—
—
0
0
39
400
0.91
0.05
5.6
4.6
2.02
1.89
mu/l
0.29
39
380
33
322
1.06
0.02
6.2
3.5
1.44
1.41
mmol/l
0.16
33
304
31
304
1.05
0.00
6.2
3.3
1.20
1.15
mmol/l
0.16
31
284
13
127
1.03
0.00
2.7
2.3
—
—
—
0
0
23
227
1.02
0.00
3.2
2.4
—
—
—
0
0
32
325
0.96
0.00
6.6
3.7
2.36
2.76
mmol/l
2.12
32
307
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
22.8
—
0.71
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
55
0.90
-0.00
1.6
1.6
—
—
—
0
0
6
60
1.00
-0.00
4.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.0
—
1.41
—
0
7
0
6
0.00
-0.00
0.0
7.3
—
—
—
0
0
8
81
0.99
-0.00
1.6
2.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
213.60
—
0
5
5
55
0.90
-0.00
1.6
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
55
0.90
-0.00
1.6
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
80.20
—
0
5
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
56
0.88
-0.00
1.6
1.6
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_ABSENCE_ATRES_STENO_LARGE_INTESTINE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_ABSENCE_ATRES_STENO_LARGE_INTESTINE.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_ABSENCE_ATRES_STENO_LARGE_INTESTINE – Congenital absence, atresia and stenosis of large intestine

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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