No definition available.
Congenital absence, atresia and stenosis of large intestine
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 |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
54 |
4. Check minimum number of eventsNone |
54 |
5. Include endpointsNone |
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.
Similar with more cases:
- Other congenital malformations of the digestive system
- Other congenital malformations of the digestive system
- Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly
- Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly
- Congenital malformations, deformations and chromosomal abnormalities
Similar with less cases:
None
Case counts by codes
↥
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
+∞
24.9
22
*
Q42.0
ICD-10 Finland
Congenital absence, atresia and stenosis of rectum with fistula
+∞
20.0
18
*
UKC02
NOMESCO Finland
Cystoscopy
25.4
15.0
21
13
ZXE10
NOMESCO Finland
More than one and less than three hours
9.0
14.8
36
98
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
8.0
13.2
27
60
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
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
7.3
10.8
40
152
ZXD10
NOMESCO Finland
Scheduled procedure
6.7
10.6
37
132
TJF80
NOMESCO Finland
Ostomy education
50.2
10.5
12
*
TPH04
NOMESCO Finland
Cathetrisation of vein
7.0
10.0
20
42
WX408
NOMESCO Finland
General anesthesy, balanced
6.0
10.0
32
105
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
12.2
9.8
18
21
AB4AE
NOMESCO Finland
Spinal ultrasound examination
+∞
9.7
9
*
Q87.26
ICD-10 Finland
VATER association
+∞
9.7
9
*
XKC03
NOMESCO Finland
Water cystometry
45.0
9.4
11
*
J01MA02
ATC
ciprofloxacin; systemic
6.0
9.3
23
59
WX402
NOMESCO Finland
General anaesthesia
5.8
9.2
26
75
N39.0
ICD-10 Finland
Urinary tract infection, site not specified
9.9
9.1
19
28
TPH07
NOMESCO Finland
Cathetrisation of artery
10.7
9.1
18
24
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
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
13.3
8.7
15
15
Q43.5
ICD-10 Finland
Ectopic anus
+∞
8.5
8
*
Q42.1
ICD-10 Finland
Congenital absence, atresia and stenosis of rectum without fistula
+∞
8.5
8
*
KA1MN
NOMESCO Finland
Glomerular filtration rate (GFR) Isotope mesurement
22.5
8.0
11
6
Z2221
NOMESCO Finland
Medical doctor
5.0
7.9
27
90
KC1EE
NOMESCO Finland
Ultrasound measurement of residual urine
13.8
7.8
13
12
SPAT1262
SPAT
Handing over of treatment supplies
10.5
7.8
15
19
Q62.7
ICD-10 Finland
Congenital vesico-uretero-renal reflux
92.2
7.6
8
*
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
*
N18.8
ICD-10 Finland
Other chronic renal failure
+∞
7.5
7
*
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
24.0
7.4
10
5
204
Kela drug reimbursment
Leukemia lymphatica
35.2
7.4
9
*
XKD00
NOMESCO Finland
Uroflowmetry
11.8
7.3
13
14
K56.6
ICD-10 Finland
Other and unspecified intestinal obstruction
46.0
7.0
8
*
JAH01
NOMESCO Finland
Laparoscopy
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
K59.0
ICD-10 Finland
Constipation
10.6
6.5
12
14
R4110
NOMESCO Finland
Physiotherapy
4.3
6.4
26
96
WX002
NOMESCO Finland
Sedation and analgesia
7.6
6.4
15
26
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
5.1
6.4
17
45
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
*
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
*
Z3231
NOMESCO Finland
Registered nurse
4.2
6.3
30
125
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
30
83
6.88
11.57
7.0
3.0
—
—
—
0
0
37
145
5.93
9.19
6.8
3.4
—
—
—
0
0
21
53
5.85
8.58
36.2
8.9
5.80
4.63
mmol/l
0.70
21
53
16
36
5.86
5.66
11.0
12.2
105.94
104.94
mmol/l
0.32
16
36
29
135
3.48
4.84
26.3
7.9
34.83
37.20
g/l
1.56
29
130
8
8
11.46
4.69
2.9
2.3
—
—
—
0
0
9
12
8.73
4.56
9.1
3.7
27.56
24.75
umol/l
—
9
12
30
148
3.31
4.48
17.6
3.3
—
—
—
0
0
18
69
3.41
3.97
7.3
6.4
31.49
31.21
s
0.10
18
69
34
190
3.13
3.96
12.5
4.1
0.00
0.00
estimate
—
9
32
34
192
3.08
3.85
8.8
2.9
0.22
0.00
estimate
—
9
30
7
9
8.72
3.68
1.3
1.3
13.86
13.78
u/ml
—
7
9
22
100
3.02
3.63
28.3
7.5
1.36
1.37
mmol/l
0.06
22
95
21
93
3.06
3.62
19.3
8.5
24.24
23.19
mmol/l
1.95
21
93
30
164
2.87
3.51
9.5
3.1
73.14
68.72
nmol/l
0.38
30
156
8
14
6.50
3.48
12.1
25.0
0.74
0.80
%
—
8
14
8
14
6.50
3.48
12.1
25.0
0.99
0.99
%
—
8
14
33
191
2.87
3.45
9.1
2.9
0.00
0.00
estimate
—
9
31
9
19
5.46
3.41
5.0
1.7
—
—
—
0
0
6
7
9.44
3.35
1.0
1.0
1.66
1.31
g/l
—
6
7
7
11
7.12
3.30
13.6
29.4
24.00
24.64
mmol/l
—
7
11
7
11
7.12
3.30
1.4
1.5
—
—
—
0
0
7
11
7.12
3.30
5.3
6.5
92.57
88.73
%
—
7
11
18
77
3.01
3.25
5.4
4.9
1.13
0.86
mg/l
0.25
13
64
5
5
10.82
3.04
3.2
3.0
2.12
74.96
u/ml
—
5
5
11
33
3.92
3.02
8.5
10.1
2.57
2.92
g/l
0.55
11
33
8
18
5.02
2.92
12.1
20.3
5.35
5.40
kpa
—
8
18
8
18
5.02
2.92
12.1
20.3
17.66
14.97
kpa
—
8
18
7
14
5.57
2.83
2.3
1.7
—
—
—
0
0
5
6
9.01
2.80
3.6
6.2
—
—
—
0
0
12
42
3.38
2.77
7.8
9.0
98.83
90.50
%
0.52
12
42
20
98
2.65
2.77
18.1
8.5
4.98
5.11
kpa
0.17
20
98
11
36
3.57
2.76
8.0
8.2
169.27
155.58
%
0.23
11
36
7
15
5.19
2.69
8.7
9.4
119.71
124.47
g/l
—
7
15
21
107
2.58
2.68
13.8
5.4
1.02
1.12
inr
—
6
29
11
39
3.28
2.53
10.3
17.5
1.16
1.21
mmol/l
0.08
11
39
7
17
4.56
2.45
1.7
18.1
0.87
1.12
%
—
7
17
21
112
2.43
2.40
40.4
10.2
25.24
24.82
mmol/l
0.37
21
112
20
107
2.38
2.25
6.7
2.6
2.44
2.38
mmol/l
0.89
20
100
7
19
4.07
2.23
2.0
2.6
—
—
—
0
0
36
255
2.24
2.01
27.1
5.3
155.69
124.29
u/l
0.64
36
240
0
50
0.00
2.01
0.0
1.3
—
1.96
—
0
40
7
23
3.34
1.87
1.0
1.0
—
—
—
0
0
17
95
2.15
1.67
10.1
3.2
0.00
0.00
estimate
—
9
30
6
20
3.24
1.63
2.5
2.8
—
—
—
0
0
11
52
2.40
1.57
2.7
2.6
—
—
—
0
0
9
39
2.56
1.52
2.3
2.4
—
—
—
0
0
9
40
2.49
1.49
2.7
1.6
516.22
458.82
pmol/l
—
9
34
5
17
3.13
1.39
1.2
3.5
—
—
—
0
0
33
248
1.85
1.33
36.9
6.6
92.77
101.80
ml/min/173m2
0.98
24
188
21
137
1.87
1.32
9.4
2.7
—
—
—
0
0
5
19
2.79
1.24
3.2
1.3
—
—
—
0
0
5
19
2.79
1.24
3.2
1.3
—
—
—
0
0
8
39
2.23
1.21
2.6
2.6
—
—
—
0
0
5
20
2.65
1.18
1.8
2.7
—
—
—
0
0
46
402
1.97
1.01
58.3
12.0
139.41
139.44
mmol/l
0.03
46
389
11
63
1.94
0.99
1.5
1.4
147.10
497.47
u/ml
0.45
11
58
46
405
1.91
0.88
58.5
12.0
4.01
3.98
mmol/l
0.30
46
390
49
450
1.96
0.75
50.4
11.1
27.57
22.99
mg/l
0.47
43
309
5
25
2.10
0.75
2.8
1.6
973.20
965.85
nmol/l
—
5
20
5
27
1.94
0.70
4.0
1.7
144.60
203.62
u/ml
—
5
13
5
29
1.80
0.65
4.0
1.7
—
—
—
0
0
5
29
1.80
0.65
1.4
1.7
—
—
—
0
0
0
22
0.00
0.61
0.0
2.5
—
—
—
0
0
32
277
1.38
0.48
7.4
4.2
11.94
8.87
mm/h
0.34
32
253
7
100
0.66
0.45
2.9
2.2
—
—
—
0
0
5
31
1.67
0.44
5.4
1.6
2.51
2.42
mmol/l
—
5
26
8
59
1.42
0.43
1.1
1.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.7
—
—
—
0
0
5
35
1.47
0.40
1.0
1.0
21.80
19.33
mmol/l
—
5
35
43
459
0.69
0.40
3.7
3.7
—
—
—
0
0
7
54
1.34
0.32
1.7
2.3
—
—
—
0
0
16
191
0.77
0.31
1.3
1.7
0.60
1.91
u/ml
—
5
27
5
40
1.27
0.23
1.2
1.4
—
152.57
—
0
11
9
110
0.78
0.22
2.7
2.3
—
—
—
0
0
18
205
0.82
0.22
1.8
1.9
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
30
284
1.13
0.11
5.5
2.9
1.42
1.42
mmol/l
0.02
30
265
29
276
1.11
0.08
5.8
2.9
1.25
1.19
mmol/l
0.17
29
258
29
286
1.03
0.00
5.8
3.0
2.36
2.82
mmol/l
2.03
29
269
5
50
1.00
-0.00
1.8
2.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
61
0.98
-0.00
1.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.0
—
6.90
—
0
6
0
5
0.00
-0.00
0.0
2.0
—
9.00
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_ABSENCE_ATRES_STENO_LARGE_INTESTINE and mortality.
Females
No dataMales
No dataMortality 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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