No definition available.
Medullary cystic kidney disease, nephronophthisis
Q17_MEDULLARY_CYSTIC_KIDNEY_DISEASE_NEPHRONOPHTHISIS
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
63 |
4. Check minimum number of eventsNone |
63 |
5. Include endpointsNone |
63 |
6. Filter based on genotype QC (FinnGen only) |
57 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Similar endpoints
↥List of similar endpoints to
Medullary cystic kidney disease, nephronophthisis
based on the number of shared cases.
Similar with more cases:
- Cystic kidney disease
- Cystic kidney disease, including avohilmo
- Congenital malformations of the urinary system
- Congenital malformations of the urinary system, including avohilmo
- Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 57 | 34 | 23 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 42.78 | 44.51 | 40.23 |
-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
- 60
- Matched controls
- 600
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q61.5
ICD-10 Finland
Medullary cystic kidney
+∞
86.1
60
*
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
+∞
48.7
40
*
A11CC03
ATC
alfacalcidol; systemic
1059.6
45.7
39
*
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
+∞
44.4
37
*
Z94.0
ICD-10 Finland
Kidney transplant status
+∞
44.4
37
*
127
Kela drug reimbursment
Transplant complication
+∞
43.0
36
*
A12AA04
ATC
calcium carbonate; oral
+∞
41.6
35
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
29.1
40.9
39
36
KA2AE
NOMESCO Finland
Ultrasound examination transplanted kidney
+∞
36.1
31
*
L04AA06
ATC
mycophenolic acid; systemic
353.9
36.1
33
*
KAS10
NOMESCO Finland
Allogenic transplantation of kidney from cadaver donor
+∞
33.5
29
*
H02AB04
ATC
methylprednisolone; systemic
20.5
32.6
36
41
TK800
NOMESCO Finland
Hemodialysis
+∞
30.9
27
*
KA2AT
NOMESCO Finland
Biopsy of transplanted kidney with ultrasound guidance
+∞
28.4
25
*
205
Kela drug reimbursment
Chronic hypertension
15.8
27.3
38
59
137
Kela drug reimbursment
Uraemia requiring dialysis
+∞
27.1
24
*
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
50.7
26.8
32
13
Z49.1
ICD-10 Finland
Extracorporeal dialysis
+∞
25.9
23
*
N18.8
ICD-10 Finland
Other chronic renal failure
389.3
25.8
24
*
I15.1
ICD-10 Finland
Hypertension secondary to other renal disorders
+∞
24.7
22
*
L04AD01
ATC
ciclosporin; systemic
+∞
24.7
22
*
Q61.2
ICD-10 Finland
Polycystic kidney, autosomal dominant
363.2
24.5
23
*
B03XA02
ATC
darbepoetin alfa; parenteral
129.7
23.7
24
*
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
59.4
23.7
27
8
L04AD02
ATC
tacrolimus; systemic
+∞
23.5
21
*
Z49.0
ICD-10 Finland
Preparatory care for dialysis
338.5
23.3
22
*
PBL10
NOMESCO Finland
Construction of arteriovenous fistula from radial artery
+∞
22.3
20
*
N18.0
ICD-10 Finland
End-stage renal disease
+∞
22.3
20
*
B05DA
ATC
Isotonic solutions
+∞
21.1
19
*
190
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
+∞
18.7
17
*
Z49.2
ICD-10 Finland
Other dialysis
+∞
17.5
16
*
B03XA01
ATC
erythropoietin; parenteral
+∞
16.4
15
*
B05DB
ATC
Hypertonic solutions
+∞
16.4
15
*
TK820
NOMESCO Finland
Peritoneal dialysis
+∞
16.4
15
*
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
213.4
16.3
16
*
PG1DE
NOMESCO Finland
Other extensive ultrasound examination of artery
31.3
16.1
21
10
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
10.0
15.8
23
35
C07AB02
ATC
metoprolol; systemic
9.0
15.7
27
50
JAK10
NOMESCO Finland
Laparotomy and insertion of peritoneal dialysis catheter
+∞
15.2
14
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
9.1
14.9
24
41
TJA35
NOMESCO Finland
Removal of peritoneal dialysis catheter
+∞
14.1
13
*
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
18.5
14.1
22
18
KA1AE
NOMESCO Finland
Kidney ultrasound examination
53.3
14.0
16
*
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
24.5
13.6
19
11
Q61.3
ICD-10 Finland
Polycystic kidney, unspecified
89.4
13.2
14
*
V03AE02
ATC
sevelamer; oral
+∞
13.0
12
*
L04AA01
ATC
[U] ciclosporin
+∞
11.8
11
*
B03XA03
ATC
methoxy polyethylene glycol-epoetin beta; parenteral
+∞
11.8
11
*
320
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
+∞
11.8
11
*
Q61.8
ICD-10 Finland
Other cystic kidney diseases
+∞
11.8
11
*
C08CA01
ATC
amlodipine; oral
6.2
11.4
37
123
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
16.5
11.3
18
15
R4110
NOMESCO Finland
Physiotherapy
6.1
11.2
35
112
KA3AT
NOMESCO Finland
Biopsy of kidney with ultrasound guidance
73.5
11.1
12
*
602
Kela drug reimbursment
Children's severe malnutrition
+∞
10.7
10
*
C09AA02
ATC
enalapril; systemic
6.6
10.7
23
52
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
10.2
10.6
22
32
ZXD05
NOMESCO Finland
Urgent procedure
5.7
10.4
34
112
WX408
NOMESCO Finland
General anesthesy, balanced
5.7
10.3
31
95
ZXE20
NOMESCO Finland
More than three and less than five hours
6.6
10.2
21
45
L04AX01
ATC
azathioprine; systemic
22.2
10.0
14
8
Z2446
NOMESCO Finland
Social worker
13.4
9.8
17
17
V03AE01
ATC
polystyrene sulfonate; oral
117.8
9.7
10
*
N25.8
ICD-10 Finland
Other disorders resulting from impaired renal tubular function
+∞
9.6
9
*
H05BX01
ATC
cinacalcet; oral
+∞
9.6
9
*
A12AA12
ATC
[U] calcium acetate
+∞
9.6
9
*
KA1MN
NOMESCO Finland
Glomerular filtration rate (GFR) Isotope mesurement
+∞
9.6
9
*
196
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
9.6
9
*
M01AE01
ATC
ibuprofen; systemic, rectal
0.2
9.4
27
487
C08CA02
ATC
felodipine; oral
12.4
9.0
16
17
C03CA01
ATC
furosemide; systemic
5.2
8.8
27
82
Z2221
NOMESCO Finland
Medical doctor
5.0
8.8
30
100
ZXD10
NOMESCO Finland
Scheduled procedure
5.0
8.7
38
153
J01MA12
ATC
levofloxacin; systemic
5.5
8.6
22
57
ZXE10
NOMESCO Finland
More than one and less than three hours
4.9
8.5
37
148
321
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
8.5
8
*
RS220, ,
NOMESCO Finland
39.2
8.4
10
*
C02AC05
ATC
moxonidine; oral
16.2
8.3
13
10
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
8.4
8.0
18
29
WX882
NOMESCO Finland
High dependency care
29.4
7.9
10
*
Z3231
NOMESCO Finland
Registered nurse
4.6
7.8
31
114
PG5RT
NOMESCO Finland
PTA of arterio-venous shunt for dialysis
+∞
7.4
7
*
PBM10
NOMESCO Finland
Closure of arteriovenous fistula of radial artery
+∞
7.4
7
*
KA9AE
NOMESCO Finland
Ultrasound examination transplanted kidney
+∞
7.4
7
*
K65.0
ICD-10 Finland
Acute peritonitis
34.6
7.4
9
*
TPH04
NOMESCO Finland
Cathetrisation of vein
4.7
7.3
23
70
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
9.1
7.3
15
21
ZXA00
NOMESCO Finland
Right side
4.4
7.1
26
89
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
4.9
7.0
20
56
TPX10
NOMESCO Finland
Implantation of vascular injection port
14.6
6.9
11
9
A49.9
ICD-10 Finland
Bacterial infection, unspecified
8.0
6.7
15
24
N19
ICD-10 Finland
Unspecified kidney failure
16.8
6.7
10
7
204
Kela drug reimbursment
Leukemia lymphatica
16.8
6.7
10
7
BBA40
NOMESCO Finland
Subtotal parathyroidectomy
77.8
6.6
7
*
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
7.6
6.5
15
25
XF400
NOMESCO Finland
ECG with 12 standard connections
5.0
6.5
17
44
ZXD30
NOMESCO Finland
Difficulties in perfomrming procedure
10.4
6.4
12
14
C08CA13
ATC
lercanidipine; oral
5.1
6.4
16
40
V03AG01
ATC
sodium cellulose phosphate; systemic
+∞
6.4
6
*
PBL09
NOMESCO Finland
Construction of arteriovenous fistula from brachial artery
+∞
6.4
6
*
N18.5
ICD-10 Finland
Chronic kidney disease, stage 5
+∞
6.4
6
*
Q61.0
ICD-10 Finland
Congenital single renal cyst
+∞
6.4
6
*
7531A
ICD-9 Finland
Congenital anomalies of urinary system, Cystic kidney disease
+∞
6.4
6
*
PG5AC
NOMESCO Finland
Contrast examination of injection gate to artery or vein
+∞
6.4
6
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.0
6.3
40
199
ZXE00
NOMESCO Finland
One hour or less
3.9
6.2
36
168
C07AG02
ATC
carvedilol; oral
10.9
6.1
11
12
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
10.9
6.1
11
12
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
13.0
6.0
10
9
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
30
24.85
36.04
21.2
2.2
23.35
24.14
mmol/l
0.97
34
30
36
51
16.15
27.63
21.2
2.6
5.69
5.58
kpa
0.27
36
51
41
88
12.56
22.05
9.1
2.8
0.39
0.66
e6/l
0.42
31
43
29
45
11.54
20.03
19.4
2.6
7.08
4.59
kpa
1.69
29
45
37
81
10.31
19.07
9.3
2.8
1.03
2.98
e6/l
0.75
26
36
45
130
10.85
17.75
14.2
4.3
16.10
8.09
mg/mmol
0.63
38
86
22
11
30.57
16.67
2.0
1.2
—
—
—
0
0
44
134
9.56
16.11
7.6
2.7
416.43
350.34
umol/l
3.89
44
119
31
66
8.65
15.95
17.2
5.7
102.58
103.88
mmol/l
0.56
31
66
43
138
8.47
14.57
11.0
2.4
3.37
5.81
e6/l
0.75
43
125
26
52
8.06
13.94
3.4
3.7
—
—
—
0
0
22
39
8.33
13.06
28.0
6.2
23.42
25.37
mmol/l
1.42
22
39
49
202
8.78
12.10
22.7
2.9
—
—
—
0
0
35
106
6.52
12.10
6.5
2.6
—
—
—
0
0
50
218
8.76
11.38
53.6
5.3
1.22
1.22
mmol/l
0.09
50
205
51
242
8.36
10.86
58.7
5.6
1.22
1.21
mmol/l
0.05
51
209
48
217
7.06
10.00
23.1
4.3
35.64
36.30
g/l
0.42
48
211
9
0
+∞
9.62
6.7
0.0
4.41
—
mmol/l
—
9
0
18
25
9.79
8.80
17.1
2.3
0.93
1.40
%
0.81
18
25
18
26
9.40
8.60
17.1
2.2
0.61
0.71
%
0.48
18
26
8
0
+∞
8.52
1.0
0.0
—
—
—
0
0
20
52
5.27
7.74
3.0
2.1
—
—
—
0
0
10
5
23.52
7.41
1.2
1.0
—
—
—
0
0
24
76
4.60
7.28
3.3
2.1
—
—
—
0
0
12
13
11.20
6.65
1.4
1.7
—
—
—
0
0
47
259
4.76
6.41
12.3
3.2
250.32
81.00
ug/l
4.74
47
247
6
0
+∞
6.35
3.8
0.0
—
—
—
0
0
17
36
6.16
6.24
2.2
1.6
—
—
—
0
0
9
6
17.29
6.11
1.3
2.0
—
—
—
0
0
9
6
17.29
6.11
1.3
2.0
—
—
—
0
0
18
52
4.52
6.01
3.0
2.1
—
—
—
0
0
35
163
3.75
5.96
4.0
2.6
64.17
53.79
u/l
1.35
35
151
49
290
4.76
5.78
14.9
3.9
0.00
0.00
estimate
—
8
66
14
27
6.43
5.51
8.2
6.5
21.76
25.61
mmol/l
3.10
14
27
49
296
4.57
5.47
15.3
3.9
0.00
0.00
estimate
—
8
68
49
296
4.57
5.47
15.4
4.0
0.00
0.00
estimate
—
8
64
5
0
+∞
5.27
4.4
0.0
—
—
—
0
0
11
18
7.22
4.87
5.0
1.7
23.18
24.26
mmol/l
0.85
11
18
16
52
3.83
4.48
8.3
6.7
-3.23
1.60
mmol/l
3.34
16
44
12
25
5.72
4.47
3.3
1.6
—
—
—
0
0
9
13
7.92
4.34
1.9
1.9
—
—
—
0
0
40
235
3.11
4.17
6.9
2.8
—
—
estimate
—
0
0
8
11
8.18
4.00
2.1
2.4
—
—
—
0
0
8
11
8.18
4.00
15.0
1.3
14.04
5.89
pmol/l
—
8
11
11
24
5.36
3.98
8.9
3.6
65.12
52.93
%
0.75
11
24
7
8
9.70
3.88
1.7
1.8
—
—
—
0
0
9
16
6.41
3.82
3.6
1.4
—
—
—
0
0
8
12
7.49
3.81
1.5
2.0
—
—
—
0
0
54
408
4.23
3.74
26.6
7.8
76.41
80.15
u/l
0.32
54
386
6
6
10.91
3.58
1.2
1.7
—
—
—
0
0
9
19
5.37
3.39
2.2
1.3
—
—
—
0
0
9
20
5.10
3.26
7.4
3.2
22.53
24.83
mmol/l
—
9
20
35
211
2.58
3.17
2.8
2.0
102.46
104.22
pmol/l
0.07
22
106
6
10
6.52
2.77
2.2
1.6
—
—
—
0
0
7
15
5.13
2.68
3.4
2.1
208.14
183.00
%
—
7
15
8
21
4.23
2.56
1.5
1.4
1.14
1.24
g/l
—
8
21
7
19
4.03
2.22
19.3
2.4
10.69
8.83
kpa
—
7
19
7
21
3.63
2.03
1.6
1.3
0.28
0.24
g/l
—
7
21
5
12
4.44
1.86
1.2
1.2
—
—
—
0
0
0
49
0.00
1.78
0.0
1.9
—
3.45
—
0
40
22
134
2.01
1.71
13.5
3.6
1.02
1.02
kg/l
0.54
17
86
12
57
2.38
1.68
2.1
2.5
294.58
371.12
nmol/l
0.53
12
52
5
15
3.53
1.55
1.2
1.8
—
—
—
0
0
5
15
3.53
1.55
2.8
1.9
—
—
—
0
0
5
15
3.53
1.55
1.2
1.3
—
—
—
0
0
25
164
1.90
1.55
17.2
3.9
0.00
0.00
estimate
—
7
63
6
22
2.91
1.47
1.0
2.9
—
—
—
0
0
5
16
3.31
1.47
1.2
1.3
—
—
—
0
0
10
51
2.15
1.19
7.9
3.6
33.00
29.94
%
—
10
32
47
395
1.88
1.16
4.3
3.4
—
—
—
0
0
55
494
2.36
1.15
9.4
4.5
4.67
4.60
mmol/l
0.27
55
463
30
225
1.67
1.10
12.7
3.7
0.43
0.02
estimate
—
7
55
16
105
1.71
0.94
1.2
1.7
458.88
492.39
pmol/l
0.18
16
93
52
466
1.87
0.86
67.0
17.0
13.95
13.47
%
1.79
52
461
43
366
1.62
0.86
6.3
2.9
38.84
45.70
u/l
0.49
43
353
9
55
1.75
0.78
18.3
7.1
—
—
—
0
0
7
42
1.75
0.71
2.6
2.1
—
—
—
0
0
23
179
1.46
0.65
2.8
2.8
29.43
27.96
u/l
0.09
23
171
8
50
1.69
0.64
2.8
2.2
—
—
—
0
0
13
96
1.45
0.46
2.8
2.6
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
66.65
—
0
16
13
101
1.37
0.35
2.8
2.8
—
—
—
0
0
11
86
1.34
0.28
2.2
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
13
152
0.82
0.19
1.6
1.7
—
—
—
0
0
16
148
1.11
0.07
2.4
2.2
90.94
184.29
u/l
1.67
16
142
40
412
0.91
0.06
9.3
4.4
22.33
10.29
mm/h
2.54
40
381
10
110
0.89
0.05
1.4
1.3
4.02
10.20
u/ml
—
5
40
18
170
1.08
0.04
8.9
3.3
0.00
0.00
estimate
—
7
54
13
123
1.07
0.02
4.7
5.1
1.90
1.89
ug/l
0.01
13
110
7
68
1.03
0.00
1.3
2.0
1.16
1.33
%
—
7
60
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
6.0
—
18.12
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_MEDULLARY_CYSTIC_KIDNEY_DISEASE_NEPHRONOPHTHISIS – Medullary cystic kidney disease, nephronophthisis
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).