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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

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

52

4. Check minimum number of events

None

52

5. Include endpoints

None

52

6. Filter based on genotype QC (FinnGen only)

50

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 50 21 29
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 26.00 24.38 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
52
Matched controls
520
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q87.80
ICD-10 Finland
Alport syndrome
+∞
74.4
52
*
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
133.1
22.9
23
*
Z94.0
ICD-10 Finland
Kidney transplant status
170.7
21.4
21
*
127
Kela drug reimbursment
Transplant complication
113.9
20.5
21
*
A11CC03
ATC
alfacalcidol; systemic
113.9
20.5
21
*
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
30.3
20.3
28
19
L04AD02
ATC
tacrolimus; systemic
290.8
20.0
19
*
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
85.5
19.7
21
*
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
145.4
19.0
19
*
A12AA04
ATC
calcium carbonate; oral
145.4
19.0
19
*
KA2AT
NOMESCO Finland
Biopsy of transplanted kidney with ultrasound guidance
+∞
17.7
16
*
KA2AE
NOMESCO Finland
Ultrasound examination transplanted kidney
245.7
17.7
17
*
L04AA06
ATC
mycophenolic acid; systemic
72.5
17.4
19
*
KAS10
NOMESCO Finland
Allogenic transplantation of kidney from cadaver donor
225.0
16.5
16
*
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
+∞
15.3
14
*
TK800
NOMESCO Finland
Hemodialysis
205.4
15.3
15
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
10.5
15.0
22
34
C03CA01
ATC
furosemide; systemic
15.5
14.2
25
29
Q87.8
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
+∞
14.2
13
*
Z31.5
ICD-10 Finland
Genetic counselling
17.6
13.1
21
19
137
Kela drug reimbursment
Uraemia requiring dialysis
169.2
13.1
13
*
N18.8
ICD-10 Finland
Other chronic renal failure
84.6
12.2
13
*
190
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
+∞
11.9
11
*
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
56.3
11.5
13
*
B03XA02
ATC
darbepoetin alfa; parenteral
56.3
11.5
13
*
H02AB04
ATC
methylprednisolone; systemic
12.7
11.3
21
26
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
16.5
11.2
18
16
R5120
NOMESCO Finland
Preparation of an aid
76.2
11.1
12
*
Z97.4
ICD-10 Finland
Presence of external hearing-aid
42.2
10.9
13
*
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
20.3
10.9
16
11
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
20.3
10.9
16
11
B05DA
ATC
Isotonic solutions
136.4
10.9
11
*
H05BX01
ATC
cinacalcet; oral
+∞
10.8
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
12.3
10.6
20
25
PG1DE
NOMESCO Finland
Other extensive ultrasound examination of artery
50.7
10.5
12
*
Z49.2
ICD-10 Finland
Other dialysis
121.2
9.8
10
*
Z49.0
ICD-10 Finland
Preparatory care for dialysis
121.2
9.8
10
*
I15.1
ICD-10 Finland
Hypertension secondary to other renal disorders
121.2
9.8
10
*
196
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
9.7
9
*
R31
ICD-10 Finland
Unspecified haematuria
14.8
9.6
16
15
205
Kela drug reimbursment
Chronic hypertension
10.8
9.6
19
26
M04AA01
ATC
allopurinol; systemic
18.5
9.3
14
10
Z3229
NOMESCO Finland
Other healthcare associate professional
10.0
9.2
19
28
R4110
NOMESCO Finland
Physiotherapy
5.8
9.2
26
76
RS220, ,
NOMESCO Finland
60.6
9.0
10
*
ZXA05
NOMESCO Finland
Left side
6.1
8.8
21
52
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
18.7
8.8
13
9
B05DB
ATC
Hypertonic solutions
106.7
8.7
9
*
PBL10
NOMESCO Finland
Construction of arteriovenous fistula from radial artery
106.7
8.7
9
*
Z49.1
ICD-10 Finland
Extracorporeal dialysis
+∞
8.6
8
*
320
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
+∞
8.6
8
*
V03AE01
ATC
polystyrene sulfonate; oral
+∞
8.6
8
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
6.2
8.2
18
41
DFF00
NOMESCO Finland
Pure tone audiometry
10.0
8.0
16
22
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
16.8
7.8
12
9
Z2221
NOMESCO Finland
Medical doctor
5.1
7.8
26
85
Z3231
NOMESCO Finland
Registered nurse
5.0
7.7
26
86
K65.0
ICD-10 Finland
Acute peritonitis
92.8
7.6
8
*
C08CA01
ATC
amlodipine; oral
5.3
7.5
21
59
ZXE20
NOMESCO Finland
More than three and less than five hours
7.8
7.5
18
33
V03AE02
ATC
sevelamer; oral
+∞
7.5
7
*
321
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
7.5
7
*
Z3226
NOMESCO Finland
Physiotherapist
5.1
7.0
20
57
L04AD01
ATC
ciclosporin; systemic
26.6
6.9
9
*
KA1AE
NOMESCO Finland
Kidney ultrasound examination
26.6
6.9
9
*
Z2446
NOMESCO Finland
Social worker
8.3
6.8
15
24
C09AA02
ATC
enalapril; systemic
8.3
6.8
15
24
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
11.6
6.7
12
13
DFF15
NOMESCO Finland
Speech audiometry
17.2
6.7
10
7
RD210, ,
NOMESCO Finland
17.2
6.7
10
7
KBV00
NOMESCO Finland
Insertion of stent into ureter
79.2
6.6
7
*
TK820
NOMESCO Finland
Peritoneal dialysis
79.2
6.6
7
*
N18.0
ICD-10 Finland
End-stage renal disease
+∞
6.4
6
*
KA9AE
NOMESCO Finland
Ultrasound examination transplanted kidney
+∞
6.4
6
*
78930
ICD-8 Finland
Abnormal urinary constituents of unspecified cause, Haematuria
+∞
6.4
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
34
32
28.81
35.23
15.6
8.7
11.92
6.51
mmol/l
3.59
34
32
29
36
16.95
24.39
12.2
6.5
—
—
—
0
0
30
43
15.13
22.67
9.4
6.9
—
—
—
0
0
26
17
29.12
18.87
8.6
12.2
1.83
1.24
mg/l
0.98
26
17
30
55
11.53
18.26
6.3
2.6
1.16
1.09
e6/l
0.03
20
32
38
100
11.40
16.66
10.6
2.6
0.04
0.21
e6/l
1.21
33
81
36
93
10.33
15.88
21.2
4.1
7.34
7.41
ph
—
6
12
37
103
9.99
15.05
9.8
2.5
—
—
—
0
0
37
105
9.75
14.70
10.2
2.9
7.07
9.04
mmol/l
2.22
37
95
40
134
9.60
13.15
12.4
5.2
35.90
37.82
g/l
1.56
40
129
12
0
+∞
13.04
1.8
0.0
—
—
—
0
0
29
87
6.28
10.08
5.7
3.1
—
—
—
0
0
42
177
8.14
9.98
8.1
2.9
0.00
0.00
estimate
—
10
37
42
180
7.93
9.70
12.0
4.0
0.00
0.00
estimate
—
10
36
42
180
7.93
9.70
8.1
2.9
0.00
0.00
estimate
—
10
33
9
0
+∞
9.66
6.9
0.0
—
—
—
0
0
37
147
6.26
9.13
6.3
2.7
5.30
6.00
ph
—
5
17
19
33
8.44
8.27
11.3
8.8
23.93
24.45
mmol/l
0.19
19
33
17
39
5.99
7.63
2.7
5.0
2.05
1.66
%
0.62
17
39
46
263
7.47
7.33
13.5
3.2
—
—
—
0
0
17
36
6.49
6.36
11.6
6.9
102.06
103.97
mmol/l
0.61
17
36
13
20
8.27
6.02
1.4
1.5
—
—
—
0
0
24
89
4.15
5.87
5.6
5.3
103.63
92.60
%
1.15
24
89
9
7
15.16
5.82
1.0
1.7
—
—
—
0
0
10
11
10.92
5.57
8.8
10.3
0.61
0.72
%
—
10
11
9
8
13.26
5.53
2.0
3.6
—
—
—
0
0
10
12
9.99
5.34
8.8
9.5
1.12
2.59
%
—
10
12
5
0
+∞
5.29
2.4
0.0
41.00
—
g/mol
—
5
0
11
16
8.39
5.28
3.6
1.5
—
—
—
0
0
37
197
4.04
5.18
16.4
9.7
0.00
0.00
e9/l
0.49
27
159
9
10
10.58
5.01
2.6
1.3
—
—
—
0
0
23
91
3.74
5.00
5.7
2.4
2.31
2.35
mmol/l
0.53
23
84
34
175
3.72
4.92
8.0
2.7
194.40
80.18
ug/l
0.75
34
168
10
14
8.54
4.92
9.5
4.4
21.12
23.24
mmol/l
—
10
14
7
6
13.19
4.41
1.0
7.0
61.49
34.75
mg/l
—
7
6
7
6
13.19
4.41
1.0
7.0
53.66
26.78
mg/l
—
7
6
15
48
3.99
4.34
1.9
1.8
—
—
—
0
0
13
32
5.06
4.28
6.5
2.9
—
—
—
0
0
19
73
3.53
4.22
8.4
4.1
—
—
—
0
0
43
285
3.93
4.02
14.4
7.1
90.53
83.92
u/l
0.28
43
274
9
15
7.00
4.01
1.1
1.3
—
—
—
0
0
13
38
4.21
3.64
2.8
1.8
—
—
—
0
0
23
109
2.99
3.54
2.7
2.5
76.00
54.38
u/l
0.89
23
104
33
192
2.97
3.47
12.6
8.3
0.61
0.67
%
0.27
33
179
20
89
3.03
3.42
4.5
2.3
—
—
—
0
0
7
11
7.15
3.30
1.1
1.4
—
—
—
0
0
8
16
5.70
3.19
11.6
4.8
90.38
92.49
%
—
8
16
33
200
2.78
3.09
12.7
8.8
—
—
—
0
0
24
124
2.74
3.07
17.6
5.7
0.87
1.10
inr
—
6
31
34
210
2.79
3.06
12.3
8.8
0.04
0.04
e9/l
0.14
27
185
33
201
2.76
3.05
12.7
8.2
3.30
3.32
%
0.02
33
189
9
22
4.72
3.05
1.7
5.9
63.20
67.29
g/l
—
9
22
34
211
2.77
3.01
12.3
8.8
0.60
0.56
e9/l
0.52
27
186
33
204
2.69
2.91
12.7
8.3
8.98
8.05
%
1.84
33
194
10
29
4.02
2.88
2.7
1.6
—
—
—
0
0
23
120
2.64
2.85
2.9
2.5
—
—
—
0
0
34
215
2.68
2.84
13.6
9.4
0.21
0.21
e9/l
0.07
27
193
35
226
2.68
2.78
3.6
2.7
—
—
—
0
0
19
93
2.64
2.64
8.4
3.1
0.00
0.00
estimate
—
10
34
34
221
2.56
2.60
12.3
8.5
1.84
2.01
e9/l
0.52
27
201
33
212
2.52
2.58
12.0
7.8
56.46
54.42
%
0.49
33
202
7
16
4.88
2.57
6.9
4.8
—
—
—
0
0
7
16
4.88
2.57
1.4
4.9
—
—
—
0
0
33
213
2.50
2.54
12.7
8.0
29.21
30.76
%
0.34
33
203
10
34
3.39
2.44
2.3
4.4
0.29
0.22
g/l
—
10
34
24
139
2.35
2.29
1.5
1.5
—
—
—
0
0
12
50
2.82
2.22
1.9
1.6
—
—
—
0
0
19
102
2.36
2.12
8.7
2.2
—
—
—
0
0
15
74
2.44
1.99
5.7
1.7
—
—
—
0
0
5
11
4.90
1.99
1.4
3.5
37.48
39.45
g/l
—
5
11
34
246
2.10
1.72
15.0
12.0
3.86
3.97
e9/l
0.13
27
216
7
26
2.95
1.64
1.6
1.1
—
—
—
0
0
7
28
2.73
1.51
15.4
2.5
—
—
—
0
0
45
378
2.41
1.51
6.8
3.4
4.59
4.67
mmol/l
0.22
45
363
5
16
3.34
1.47
5.6
1.4
—
—
—
0
0
18
108
2.02
1.47
5.1
1.8
—
—
—
0
0
18
108
2.02
1.47
2.1
1.7
110.71
97.04
pmol/l
—
7
58
44
367
2.29
1.46
5.9
3.1
1.44
1.33
mmol/l
0.60
44
349
9
43
2.32
1.39
1.2
1.3
—
—
—
0
0
45
380
2.37
1.35
6.8
3.6
2.74
2.84
mmol/l
0.32
45
364
19
120
1.92
1.33
8.2
9.6
—
—
—
0
0
44
377
2.08
1.16
6.8
3.3
1.33
1.43
mmol/l
1.21
44
360
5
22
2.40
1.06
15.0
4.9
—
—
—
0
0
5
22
2.40
1.06
1.6
1.3
—
—
—
0
0
19
133
1.68
0.91
4.9
2.3
—
—
—
0
0
18
127
1.64
0.83
2.1
1.5
—
—
—
0
0
0
26
0.00
0.81
0.0
1.5
—
—
—
0
0
12
76
1.75
0.80
1.8
3.0
0.87
1.84
mg/l
0.42
12
61
41
357
1.70
0.76
5.7
3.1
5.59
5.71
mmol/l
0.35
41
339
5
92
0.50
0.76
3.2
1.6
—
—
—
0
0
45
409
1.74
0.68
35.7
13.8
331.82
335.89
g/l
1.94
45
409
8
52
1.63
0.63
1.1
2.0
—
—
—
0
0
0
19
0.00
0.61
0.0
1.2
—
3.98
—
0
11
0
21
0.00
0.61
0.0
1.2
—
7.56
—
0
14
0
22
0.00
0.61
0.0
1.2
—
0.18
—
0
14
0
23
0.00
0.60
0.0
1.5
—
—
—
0
0
0
23
0.00
0.60
0.0
1.5
—
—
—
0
0
32
364
0.69
0.57
5.6
4.3
1.93
1.82
mu/l
0.22
32
345
5
84
0.55
0.50
1.4
3.2
36.80
72.78
ug/g
—
5
67
9
70
1.34
0.39
5.2
3.1
—
—
—
0
0
5
41
1.24
0.22
1.2
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
7.7
—
—
—
0
0
0
10
0.00
0.21
0.0
5.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
4.4
—
403.17
—
0
12
0
12
0.00
0.21
0.0
4.3
—
4.25
—
0
12
0
13
0.00
0.21
0.0
4.2
—
347.92
—
0
13
0
13
0.00
0.21
0.0
4.2
—
3.41
—
0
13
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
29
308
0.87
0.13
4.8
3.8
14.69
14.83
pmol/l
0.11
29
292
11
97
1.17
0.10
4.5
3.8
2.34
1.50
ug/l
0.28
11
90
30
286
1.12
0.09
4.4
3.6
19.30
7.23
mm/h
2.77
30
272
7
63
1.13
0.08
1.0
1.2
—
—
—
0
0
9
84
1.09
0.07
2.4
1.9
—
—
—
0
0
14
151
0.90
0.06
3.3
2.3
—
—
—
0
0
11
116
0.93
0.01
1.3
1.7
1.32
2.19
g/l
—
5
59
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
5.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
269.33
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
1.48
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
256.20
—
0
5
0
8
0.00
-0.00
0.0
6.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
43.60
—
0
5
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
1.36
—
0
5
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0

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).