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Alport

Endpoint Browser PheWeb

Q17_ALPORT

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 — Q87.80
  • Cause of death: ICD-10 — Q87.80

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

59

4. Check minimum number of events

None

59

5. Include endpoints

None

59

6. Filter based on genotype QC (FinnGen only)

54

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO

Extra metadata

First used in FinnGen datafreeze
DF12

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 54 25 29
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 28.45 29.94 27.17

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
56
Matched controls
560
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q87.80
ICD-10 Finland
Alport syndrome
+∞
80.2
56
*
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
19.0
27.1
28
28
C03CA01
ATC
furosemide; systemic
14.9
22.6
27
33
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
94.8
21.9
23
*
Z94.0
ICD-10 Finland
Kidney transplant status
163.4
21.2
21
*
A12AA04
ATC
calcium carbonate; oral
151.4
20.1
20
*
A11CC03
ATC
alfacalcidol; systemic
70.3
20.0
22
5
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
70.3
20.0
22
5
L04AD02
ATC
tacrolimus; systemic
280.1
19.9
19
*
127
Kela drug reimbursment
Transplant complication
81.8
19.6
21
*
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
93.4
18.1
19
*
KA2AT
NOMESCO Finland
Biopsy of transplanted kidney with ultrasound guidance
+∞
17.6
16
*
KA2AE
NOMESCO Finland
Ultrasound examination transplanted kidney
238.1
17.6
17
*
L04AA06
ATC
mycophenolic acid; systemic
69.8
17.3
19
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
10.0
15.7
24
39
Q87.8
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
+∞
15.3
14
*
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
+∞
15.3
14
*
TK800
NOMESCO Finland
Hemodialysis
200.1
15.3
15
*
KAS10
NOMESCO Finland
Allogenic transplantation of kidney from cadaver donor
200.1
15.3
15
*
Z31.5
ICD-10 Finland
Genetic counselling
15.4
13.4
23
24
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
23.1
13.3
19
12
137
Kela drug reimbursment
Uraemia requiring dialysis
165.6
13.0
13
*
N18.8
ICD-10 Finland
Other chronic renal failure
60.9
12.5
14
*
190
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
+∞
11.9
11
*
B03XA02
ATC
darbepoetin alfa; parenteral
55.1
11.5
13
*
Z97.4
ICD-10 Finland
Presence of external hearing-aid
36.4
11.4
14
5
R31
ICD-10 Finland
Unspecified haematuria
17.0
11.4
18
15
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
7.4
11.1
21
42
R5120
NOMESCO Finland
Preparation of an aid
41.3
10.9
13
*
B05DA
ATC
Isotonic solutions
134.1
10.8
11
*
Z49.0
ICD-10 Finland
Preparatory care for dialysis
134.1
10.8
11
*
H05BX01
ATC
cinacalcet; oral
+∞
10.8
10
*
H02AB04
ATC
methylprednisolone; systemic
10.9
10.5
21
29
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
18.1
10.5
16
12
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
27.5
9.9
13
6
PG1DE
NOMESCO Finland
Other extensive ultrasound examination of artery
37.3
9.9
12
*
M04AA01
ATC
allopurinol; systemic
15.4
9.8
16
14
I15.1
ICD-10 Finland
Hypertension secondary to other renal disorders
119.4
9.7
10
*
Z49.2
ICD-10 Finland
Other dialysis
119.4
9.7
10
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
9.5
9.7
21
33
196
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
9.6
9
*
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
13.0
9.6
17
18
RS220, ,
NOMESCO Finland
59.7
9.0
10
*
Z3229
NOMESCO Finland
Other healthcare associate professional
9.0
8.7
19
30
205
Kela drug reimbursment
Chronic hypertension
9.0
8.7
19
30
PBL10
NOMESCO Finland
Construction of arteriovenous fistula from radial artery
105.3
8.7
9
*
B05DB
ATC
Hypertonic solutions
105.3
8.7
9
*
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
15.1
8.7
14
12
320
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
+∞
8.5
8
*
V03AE01
ATC
polystyrene sulfonate; oral
+∞
8.5
8
*
Z49.1
ICD-10 Finland
Extracorporeal dialysis
+∞
8.5
8
*
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
16.4
8.4
13
10
DFF00
NOMESCO Finland
Pure tone audiometry
8.9
7.9
17
26
C08CA01
ATC
amlodipine; oral
5.0
7.7
23
68
R4110
NOMESCO Finland
Physiotherapy
4.8
7.7
26
85
ZXA05
NOMESCO Finland
Left side
5.2
7.6
21
58
V03AE02
ATC
sevelamer; oral
+∞
7.4
7
*
78930
ICD-8 Finland
Abnormal urinary constituents of unspecified cause, Haematuria
+∞
7.4
7
*
321
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
7.4
7
*
ZXE20
NOMESCO Finland
More than three and less than five hours
7.3
7.3
18
34
Z2221
NOMESCO Finland
Medical doctor
4.6
7.2
27
95
C09AA02
ATC
enalapril; systemic
8.2
7.1
16
26
K65.0
ICD-10 Finland
Acute peritonitis
45.7
6.9
8
*
L04AD01
ATC
ciclosporin; systemic
26.2
6.9
9
*
KA1AE
NOMESCO Finland
Kidney ultrasound examination
26.2
6.9
9
*
RD210, ,
NOMESCO Finland
17.0
6.7
10
7
DFF15
NOMESCO Finland
Speech audiometry
17.0
6.7
10
7
Z3231
NOMESCO Finland
Registered nurse
4.3
6.6
26
94
KBV00
NOMESCO Finland
Insertion of stent into ureter
78.4
6.6
7
*
TK820
NOMESCO Finland
Peritoneal dialysis
78.4
6.6
7
*
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
10.5
6.4
12
14
Z2446
NOMESCO Finland
Social worker
7.5
6.4
15
26
KA9AE
NOMESCO Finland
Ultrasound examination transplanted kidney
+∞
6.4
6
*
N18.0
ICD-10 Finland
End-stage renal disease
+∞
6.4
6
*
5997A
ICD-9 Finland
Other disorders of urethra and urinary tract, Haematuria
+∞
6.4
6
*
Z3226
NOMESCO Finland
Physiotherapist
4.5
6.3
20
61
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
8.5
6.2
13
19
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
6.1
6.2
17
37
C10AA05
ATC
atorvastatin; oral
4.1
6.1
25
92

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
38
38
29.00
38.12
16.4
9.1
12.03
6.37
mmol/l
4.42
38
38
29
49
11.20
18.74
16.8
9.8
—
—
—
0
0
27
42
11.48
18.60
12.0
9.4
22.89
24.17
mmol/l
1.43
27
42
30
54
10.81
18.37
12.3
8.1
7.35
7.38
ph
1.90
24
34
43
136
10.31
15.25
11.7
3.1
6.75
9.15
mmol/l
3.95
43
121
46
160
11.50
14.74
13.6
5.8
35.96
38.07
g/l
2.14
46
154
31
72
8.40
14.69
7.2
2.8
1.16
1.14
e6/l
0.01
20
34
24
43
9.02
14.33
13.8
14.5
24.07
24.72
mmol/l
0.30
24
43
13
0
+∞
14.14
1.8
0.0
—
—
—
0
0
40
125
8.70
14.05
12.0
2.8
0.06
0.17
e6/l
0.84
34
95
37
112
7.79
13.24
26.5
4.5
7.37
7.39
ph
2.70
31
80
38
125
7.35
12.24
10.7
2.7
—
—
estimate
—
0
0
10
0
+∞
10.75
7.6
0.0
—
—
—
0
0
19
36
7.47
10.49
3.1
5.6
67.25
78.20
e9/l
—
10
29
48
230
8.58
10.20
9.5
3.2
0.00
0.00
estimate
—
10
44
48
232
8.45
9.83
9.5
3.2
0.00
0.00
estimate
—
10
48
48
233
8.39
9.82
9.5
3.3
0.00
0.00
estimate
—
10
43
43
190
6.44
9.14
7.4
2.9
5.92
6.27
ph
0.97
18
107
37
153
5.18
8.27
10.9
9.8
—
—
—
0
0
11
7
19.10
7.58
1.0
1.7
—
—
—
0
0
30
111
4.67
7.58
7.9
3.5
—
—
—
0
0
19
51
5.13
7.08
16.1
12.0
102.95
104.35
mmol/l
0.43
19
51
10
6
19.83
7.04
10.1
1.7
24.79
23.73
mmol/l
—
10
6
50
305
6.95
6.91
14.8
3.6
—
—
—
0
0
30
123
4.10
6.37
6.1
2.3
2.35
2.36
mmol/l
0.06
30
115
13
21
7.71
5.80
3.8
1.4
—
—
—
0
0
9
8
13.09
5.51
7.9
23.4
11.51
12.34
%
—
9
8
13
24
6.71
5.31
1.4
1.4
—
—
—
0
0
5
0
+∞
5.28
3.4
0.0
42.00
—
mg/mmol
—
5
0
15
34
5.63
5.24
6.5
2.9
—
—
—
0
0
49
325
5.05
5.23
15.9
7.8
86.67
81.61
u/l
0.24
49
312
13
25
6.43
5.16
11.5
11.1
22.32
23.99
mmol/l
0.50
13
25
9
10
10.45
4.99
12.0
19.8
77.67
62.01
%
—
9
10
23
91
3.59
4.93
8.0
4.3
—
—
—
0
0
10
15
7.85
4.71
2.6
1.3
—
—
—
0
0
7
5
15.69
4.70
18.6
2.4
15.39
5.34
pmol/l
—
7
5
8
8
11.40
4.68
1.4
7.4
57.51
42.30
mg/l
—
8
8
8
8
11.40
4.68
1.4
7.4
49.47
25.59
mg/l
—
8
8
15
39
4.87
4.65
10.9
8.7
7.35
7.41
ph
—
5
19
40
230
3.59
4.62
20.0
11.4
0.00
0.00
e9/l
0.49
29
186
17
57
3.85
4.60
1.8
2.1
—
—
—
0
0
9
12
8.68
4.55
1.1
1.3
—
—
—
0
0
10
18
6.51
4.20
13.9
13.0
1.22
2.32
%
—
10
18
10
18
6.51
4.20
13.9
13.0
0.65
0.55
%
—
10
18
39
229
3.32
4.19
13.4
8.9
0.67
0.68
%
0.03
39
218
39
231
3.27
4.09
13.4
8.8
3.17
3.34
%
0.20
39
222
39
235
3.17
3.90
13.4
8.7
8.83
8.47
%
0.52
39
227
11
25
5.21
3.87
1.7
6.9
63.35
66.59
g/l
0.99
11
25
11
25
5.21
3.87
9.3
3.3
9.76
9.88
kpa
0.05
11
25
6
5
13.19
3.85
14.2
1.0
—
—
—
0
0
39
244
2.97
3.48
13.4
8.6
28.05
30.85
%
0.86
39
238
12
34
4.20
3.46
2.8
1.5
—
—
—
0
0
22
102
2.91
3.46
4.5
2.3
—
—
—
0
0
39
246
2.93
3.40
13.4
9.5
0.04
0.04
e9/l
0.03
31
214
39
246
2.93
3.40
13.4
9.5
0.60
0.55
e9/l
0.75
31
215
9
20
5.15
3.27
1.1
1.3
—
—
—
0
0
24
120
2.75
3.25
9.3
3.2
0.00
0.00
estimate
—
10
45
38
240
2.81
3.24
8.9
3.1
224.96
77.50
ug/l
1.11
38
230
10
26
4.45
3.16
14.6
11.5
91.80
91.73
%
—
10
26
27
145
2.66
3.16
19.0
6.3
1.05
1.06
inr
0.04
22
120
27
146
2.64
3.11
3.0
2.7
—
—
—
0
0
14
53
3.19
3.07
2.9
1.7
—
—
—
0
0
39
256
2.72
2.98
14.6
9.7
0.20
0.21
e9/l
0.11
31
229
39
257
2.70
2.94
13.5
9.2
1.82
2.00
e9/l
0.64
31
234
8
18
5.00
2.92
6.1
4.6
—
—
—
0
0
24
127
2.56
2.84
2.8
2.6
74.08
55.79
u/l
0.75
24
121
5
6
8.98
2.80
3.2
1.3
774.42
243.45
ug/l
—
5
6
8
19
4.73
2.80
1.7
5.4
—
—
—
0
0
14
57
2.94
2.70
1.9
1.7
—
—
—
0
0
7
18
4.28
2.33
1.0
1.2
—
—
—
0
0
39
277
2.34
2.21
16.1
12.8
4.06
3.96
e9/l
0.11
31
246
5
10
5.36
2.11
1.2
1.0
—
—
—
0
0
38
272
2.24
2.05
13.9
5.8
6.00
6.28
mmol/l
0.83
38
253
27
171
2.12
1.97
1.7
1.6
—
—
—
0
0
9
34
2.95
1.97
1.9
1.1
—
—
—
0
0
24
152
2.01
1.70
9.4
8.3
—
—
—
0
0
51
437
2.87
1.63
7.5
3.9
1.35
1.43
mmol/l
1.15
51
420
51
437
2.87
1.63
7.6
4.0
4.52
4.65
mmol/l
0.39
51
422
24
158
1.91
1.49
2.5
1.8
115.33
99.12
pmol/l
—
9
80
16
91
2.06
1.49
5.9
1.7
—
—
—
0
0
51
441
2.75
1.46
7.7
4.3
2.69
2.80
mmol/l
0.33
51
423
6
24
2.67
1.34
17.7
4.7
7.36
7.39
ph
—
6
19
36
277
1.84
1.32
4.1
2.9
—
—
—
0
0
5
18
2.94
1.31
1.4
1.5
0.85
1.17
g/l
—
5
18
5
18
2.94
1.31
1.4
1.5
0.25
0.21
g/l
—
5
18
20
129
1.86
1.29
9.0
2.3
0.00
0.00
estimate
—
8
40
29
211
1.78
1.26
3.4
3.0
—
—
estimate
—
0
0
25
175
1.77
1.23
9.7
2.9
0.00
0.00
estimate
—
9
43
6
26
2.46
1.22
1.2
1.8
—
3.87
—
0
6
22
150
1.77
1.17
2.4
1.7
—
—
—
0
0
7
31
2.43
1.15
17.6
2.4
—
—
—
0
0
10
52
2.12
1.14
1.3
1.4
—
—
—
0
0
23
163
1.70
1.06
4.7
2.3
—
—
—
0
0
20
137
1.72
1.03
5.3
1.9
—
—
—
0
0
47
415
1.82
0.84
6.4
3.5
5.51
5.69
mmol/l
1.07
47
392
0
25
0.00
0.81
0.0
1.2
—
6.09
—
0
18
0
26
0.00
0.80
0.0
1.2
—
0.17
—
0
18
5
30
1.73
0.63
4.4
3.9
4.40
5.05
pmol/l
—
5
25
0
23
0.00
0.59
0.0
1.1
—
3.00
—
0
15
14
101
1.51
0.56
4.6
2.7
—
—
—
0
0
9
64
1.48
0.55
1.4
2.0
—
—
—
0
0
39
431
0.69
0.54
5.7
4.9
1.88
1.80
mu/l
0.19
39
415
8
119
0.62
0.53
2.9
1.6
—
—
—
0
0
0
15
0.00
0.42
0.0
1.5
—
—
—
0
0
0
16
0.00
0.42
0.0
4.0
—
302.87
—
0
16
0
16
0.00
0.42
0.0
4.0
—
3.43
—
0
16
0
17
0.00
0.41
0.0
3.8
—
339.24
—
0
17
7
97
0.68
0.34
1.4
3.5
31.71
71.67
ug/g
—
7
75
9
111
0.77
0.22
13.9
6.2
—
—
—
0
0
17
195
0.82
0.22
3.6
2.7
—
—
—
0
0
0
11
0.00
0.21
0.0
7.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
5.1
—
—
—
0
0
6
48
1.28
0.21
1.2
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
0.74
—
0
8
0
13
0.00
0.21
0.0
1.1
—
11.72
—
0
7
5
65
0.75
0.18
4.6
3.0
5.77
8.03
e9/l
—
5
59
47
453
1.23
0.14
41.7
16.1
331.79
335.63
g/l
1.79
47
453
35
364
0.90
0.09
4.7
4.2
14.82
14.73
pmol/l
0.06
35
349
12
108
1.14
0.08
2.4
2.0
—
—
—
0
0
14
139
1.01
0.00
1.3
1.7
1.88
2.13
g/l
—
7
76
0
6
0.00
0.00
0.0
1.0
—
40.50
—
0
6
0
5
0.00
-0.00
0.0
13.6
—
0.51
—
0
5
7
75
0.92
-0.00
1.1
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
12.6
—
31.00
—
0
5
0
8
0.00
-0.00
0.0
1.3
—
205.87
—
0
8
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
9
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
1.8
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
256.20
—
0
5
0
8
0.00
-0.00
0.0
3.0
—
1.10
—
0
8
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
1.93
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
7.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
5.5
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
299.56
—
0
9

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_ALPORT – Alport

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).