No definition available.
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. |
207 |
4. Check minimum number of eventsNone |
207 |
5. Include endpointsNone |
207 |
6. Filter based on genotype QC (FinnGen only) |
185 |
Control definitions (FinnGen only)
- Control exclude
- D3_BLOODOTHER
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D75
- Name in latin
- Erythrocytosis familialis
Similar endpoints
↥List of similar endpoints to
Familial erythrocytosis
based on the number of shared cases.
Similar with more cases:
- Other diseases of blood and blood-forming organs
- Other diseases of blood and blood-forming organs, wide
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any prescribed medicine buy
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1157 | 448 | 700 |
| Only index persons | 1033 | 383 | 650 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 56.72 | 59.64 | 54.64 |
| Only index persons | 55.02 | 57.68 | 53.46 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 185 | 74 | 111 |
| Unadjusted period prevalence (%) | 0.04 | 0.03 | 0.05 |
| Median age at first event (years) | 55.89 | 55.53 | 56.13 |
-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
- 188
- Matched controls
- 1880
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D75.0
ICD-10 Finland
Familial erythrocytosis
+∞
268.8
187
*
D45
ICD-10 Finland
Polycythaemia vera
58.3
82.8
48
11
D75.1
ICD-10 Finland
Secondary polycythaemia
+∞
51.4
47
*
XW000
NOMESCO Finland
Bone marrow biopsy
20.1
48.4
40
25
L01XX05
ATC
hydroxycarbamide; oral
37.7
23.2
29
9
117
Kela drug reimbursment
Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue
9.3
22.4
29
36
D75.9
ICD-10 Finland
Disease of blood and blood-forming organs, unspecified
+∞
21.2
20
*
D75.2
ICD-10 Finland
Essential thrombocytosis
+∞
19.1
18
*
TPH00
NOMESCO Finland
Phlebotomy
40.5
12.4
15
*
9950/3-C42.1
ICD-O-3
Polycythemia vera of bone marrow
31.8
9.5
12
*
215
Kela drug reimbursment
Diabetes, non-insulin-treated
2.7
8.9
63
295
D47.3
ICD-10 Finland
Essential (haemorrhagic) thrombocythaemia
35.0
8.2
10
*
SPAT1074
SPAT
Venesection
35.0
8.2
10
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.1
7.4
35
130
E66.01
ICD-10 Finland
Obesity due to excess calories
3.5
7.0
25
78
103
Kela drug reimbursment
Diabetes, insulin-treated
2.3
6.8
66
352
Z03.9
ICD-10 Finland
Observation for suspected disease or condition, unspecified
2.6
6.7
44
195
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
3.8
6.7
21
60
A10BA02
ATC
metformin; oral
2.3
6.4
65
352
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
58
29
28.48
78.91
1.3
1.1
12.99
20.02
u/l
0.83
53
23
45
21
27.86
62.28
1.1
1.1
—
—
—
0
0
61
238
3.31
12.37
2.3
2.5
2.60
2.26
g/l
4.03
56
221
134
883
2.80
9.47
11.0
10.0
4.64
4.15
e9/l
1.16
123
768
78
508
1.92
4.41
3.9
4.1
5.49
11.23
mg/mmol
1.49
56
318
78
523
1.84
3.93
3.1
3.0
38.31
32.64
u/l
0.50
71
496
145
1195
1.93
3.55
10.0
7.8
85.00
79.04
u/l
0.81
140
1133
101
756
1.73
3.35
7.1
7.9
1.21
1.21
mmol/l
0.21
96
666
90
671
1.65
2.90
4.3
5.1
36.68
35.81
g/l
0.86
85
644
66
465
1.65
2.59
3.0
3.2
1649.52
1278.51
ng/l
0.26
53
396
9
29
3.21
2.26
3.3
3.1
5.19
10.88
pmol/l
—
9
29
83
648
1.50
1.99
2.1
2.1
98.94
95.58
pmol/l
0.22
51
322
110
918
1.48
1.85
6.1
5.4
7.00
6.74
mmol/l
0.60
104
871
18
96
1.97
1.78
1.9
1.6
—
—
—
0
0
6
18
3.41
1.76
1.5
1.1
—
—
—
0
0
64
484
1.49
1.75
2.4
2.6
48.83
72.68
u/l
1.15
58
449
7
24
2.99
1.74
1.1
1.4
—
—
—
0
0
7
24
2.99
1.74
1.1
1.4
—
—
—
0
0
39
266
1.59
1.70
3.4
2.8
0.72
0.94
e6/l
0.36
25
136
6
19
3.23
1.67
1.5
1.1
—
—
—
0
0
6
19
3.23
1.67
1.5
1.1
—
—
—
0
0
22
129
1.80
1.65
2.3
2.2
0.29
0.18
e6/l
0.36
22
123
10
42
2.46
1.64
1.6
1.8
—
—
—
0
0
5
14
3.64
1.62
6.0
2.6
0.60
0.93
%
—
5
14
24
148
1.71
1.53
3.4
2.1
318.63
384.70
nmol/l
1.13
24
138
75
600
1.42
1.49
3.4
3.6
0.11
0.00
estimate
0.48
19
138
50
371
1.47
1.48
4.3
2.3
—
—
—
0
0
11
53
2.14
1.41
2.0
1.7
—
—
—
0
0
149
1358
1.47
1.32
5.9
5.1
1.77
1.93
mu/l
1.07
141
1245
93
786
1.36
1.29
4.1
3.7
0.00
0.00
estimate
-0.00
21
163
9
45
2.05
1.25
1.3
1.6
—
—
—
0
0
5
19
2.67
1.22
1.6
1.1
—
—
—
0
0
37
269
1.47
1.21
1.9
1.8
—
—
—
0
0
93
792
1.34
1.20
4.0
3.7
0.00
9.84
estimate
0.50
21
165
157
1455
1.48
1.18
18.7
15.0
81.11
81.84
ml/min/173m2
0.17
148
1348
5
20
2.54
1.16
1.6
1.1
—
—
—
0
0
5
20
2.54
1.16
1.6
1.1
—
—
—
0
0
93
801
1.32
1.08
4.1
3.7
0.00
0.00
estimate
-0.00
19
150
164
1542
1.50
1.04
23.4
18.2
139.64
139.70
mmol/l
0.10
164
1516
156
1455
1.42
1.02
5.9
4.9
6.28
5.99
mmol/l
1.62
147
1350
13
76
1.76
1.02
4.3
10.8
1.60
1.55
%
0.06
13
68
43
334
1.37
0.99
1.4
1.7
1.58
1.39
mg/l
0.06
35
262
9
52
1.77
0.94
2.2
1.5
—
—
—
0
0
15
94
1.65
0.94
3.9
3.0
1.71
1.76
mmol/l
—
10
69
120
1084
1.30
0.92
4.0
3.2
56.25
49.84
u/l
0.51
114
1027
33
249
1.39
0.90
3.5
2.9
2.66
2.12
e6/l
0.14
19
121
10
164
0.59
0.85
8.7
8.6
—
—
—
0
0
160
1515
1.38
0.80
20.2
15.4
20.86
24.89
mg/l
0.97
140
1240
31
237
1.37
0.79
8.6
7.5
103.48
103.90
mmol/l
0.13
31
237
73
632
1.25
0.76
3.7
3.7
25.90
46.55
ng/l
1.33
54
452
7
38
1.87
0.74
1.1
1.6
—
—
—
0
0
58
490
1.27
0.74
3.9
4.0
21.57
22.47
%
0.20
27
213
7
39
1.82
0.73
1.6
1.2
—
—
—
0
0
158
1500
1.33
0.71
6.0
4.9
1.22
1.41
mmol/l
8.73
152
1388
5
26
1.95
0.71
4.8
2.9
106.40
106.38
mmol/l
—
5
26
5
26
1.95
0.71
4.8
2.9
1.20
1.20
mmol/l
—
5
26
7
42
1.69
0.69
1.1
1.3
—
—
—
0
0
7
42
1.69
0.69
1.4
1.3
—
—
—
0
0
27
207
1.36
0.68
1.8
1.7
—
—
—
0
0
52
439
1.26
0.66
3.4
3.1
0.17
0.35
e6/l
1.14
42
314
152
1440
1.29
0.66
5.5
4.2
1.62
1.32
mmol/l
4.35
147
1329
21
156
1.39
0.64
4.4
3.4
3.16
1.97
mmol/l
0.64
16
131
81
721
1.22
0.63
4.2
2.7
—
—
estimate
—
0
0
160
1529
1.31
0.62
6.9
5.7
2.59
2.72
mmol/l
1.11
154
1422
35
285
1.28
0.60
2.6
3.2
2.46
2.45
mmol/l
0.07
29
258
6
35
1.74
0.58
1.7
1.4
—
—
—
0
0
24
186
1.33
0.58
4.4
2.2
13.02
15.07
nmol/l
0.77
24
174
25
195
1.33
0.58
1.8
1.8
—
—
—
0
0
12
169
0.69
0.55
1.5
2.3
—
—
—
0
0
21
161
1.34
0.54
1.4
1.4
—
—
—
0
0
101
928
1.19
0.54
2.9
3.0
—
—
—
0
0
11
157
0.68
0.54
1.5
2.2
—
—
—
0
0
11
75
1.50
0.52
1.1
1.0
—
—
—
0
0
52
452
1.21
0.51
3.2
3.0
0.00
0.00
estimate
-0.00
18
129
10
67
1.52
0.51
1.7
1.8
167.30
243.40
pmol/l
—
10
62
40
340
1.22
0.48
1.4
1.3
0.82
1.85
u/ml
0.78
12
92
7
49
1.44
0.46
2.6
1.3
0.18
0.24
g/l
—
7
49
12
86
1.42
0.45
3.7
2.7
0.66
0.65
%
0.06
12
86
7
50
1.42
0.45
2.3
1.3
1.30
1.17
g/l
—
7
50
23
280
0.80
0.42
1.3
1.3
15.17
30.01
iu/ml
—
6
94
0
15
0.00
0.41
0.0
1.0
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
12
88
1.39
0.41
3.7
2.7
1.33
1.42
%
0.16
12
88
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
42
374
1.16
0.32
3.1
2.9
0.78
0.76
ug/l
0.05
26
215
7
53
1.33
0.31
1.3
2.7
—
—
—
0
0
100
947
1.12
0.29
4.5
4.3
—
3556.81
—
0
16
14
114
1.25
0.26
2.3
2.9
68.44
67.56
g/l
0.20
14
105
5
39
1.29
0.23
1.2
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
2.2
—
49.96
—
0
10
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
1.12
—
0
10
15
127
1.20
0.20
2.3
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
0.89
—
0
6
0
14
0.00
0.20
0.0
1.7
—
4.05
—
0
14
0
14
0.00
0.20
0.0
1.4
—
1.01
—
0
6
0
14
0.00
0.20
0.0
1.4
—
1.00
—
0
6
0
14
0.00
0.20
0.0
2.3
—
—
—
0
0
12
99
1.23
0.20
9.8
8.2
24.29
25.32
mmol/l
0.45
12
99
34
310
1.12
0.19
5.4
3.5
480.58
499.95
ng/l
0.01
24
237
22
197
1.13
0.16
4.9
6.2
1.03
1.05
mmol/l
0.22
22
186
61
638
0.94
0.13
2.0
2.0
1.86
1.38
mmol/l
2.11
54
534
12
104
1.16
0.12
1.7
1.4
—
—
—
0
0
5
44
1.14
0.10
1.4
1.4
3.76
1.55
mg/l
—
5
26
5
44
1.14
0.10
2.0
1.2
—
—
—
0
0
167
1653
1.09
0.09
34.8
23.2
90.16
90.89
fl
0.64
167
1639
167
1653
1.09
0.09
35.8
23.7
45.33
41.08
%
10.06
167
1638
167
1653
1.09
0.09
35.1
23.4
152.36
137.53
g/l
12.65
167
1638
5
63
0.79
0.08
1.0
1.3
—
—
—
0
0
18
166
1.09
0.08
14.1
11.5
132.78
121.98
g/l
1.27
18
161
11
98
1.13
0.08
16.9
12.8
16.55
15.69
%
0.57
11
92
8
93
0.85
0.07
5.8
3.4
26.11
24.48
mmol/l
—
8
93
35
335
1.06
0.06
3.3
3.7
1.02
1.02
kg/l
0.05
25
227
27
258
1.05
0.05
1.9
1.7
927.83
1205.53
nmol/l
1.11
22
204
44
427
1.04
0.05
3.8
3.8
0.00
0.00
estimate
-0.00
18
148
24
251
0.95
0.04
1.6
1.6
—
—
—
0
0
16
153
1.05
0.01
2.3
3.4
—
—
—
0
0
11
109
1.01
0.00
3.8
3.6
1.22
1.22
mmol/l
0.00
11
95
26
261
1.00
0.00
2.1
3.1
0.84
0.82
mmol/l
0.60
26
247
25
247
1.01
0.00
1.4
1.3
6.69
8.52
u/ml
—
9
94
14
135
1.04
0.00
2.0
2.7
0.22
0.21
g/l
0.20
14
121
0
8
0.00
0.00
0.0
1.3
—
56.63
—
0
8
0
8
0.00
0.00
0.0
1.3
—
10.11
—
0
8
6
59
1.02
0.00
2.2
1.7
—
—
—
0
0
5
58
0.86
0.00
1.0
1.2
0.91
0.87
g/l
—
5
58
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
5
54
0.92
-0.00
3.8
4.8
43.18
161.64
mg/l
—
5
47
0
6
0.00
-0.00
0.0
1.2
—
27.12
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
1813.00
—
0
7
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
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
8
86
0.93
-0.00
1.9
1.3
—
—
—
0
0
6
62
0.97
-0.00
3.7
3.0
11.32
10.58
g/l
—
6
57
5
54
0.92
-0.00
3.8
4.8
26.56
27.92
mg/l
—
5
47
0
7
0.00
-0.00
0.0
4.7
—
4.61
—
0
7
5
57
0.87
-0.00
1.0
1.1
1.68
1.46
g/l
—
5
57
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
7
0.00
-0.00
0.0
1.4
—
10.47
—
0
7
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
0.30
—
0
6
0
9
0.00
-0.00
0.0
1.2
—
116.67
—
0
9
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.7
—
10.19
—
0
7
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
67.62
—
0
5
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
103.60
—
0
5
0
5
0.00
-0.00
0.0
7.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
10.34
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
17.80
—
0
5
Mortality – FinRegistry
↥Association
Association between endpoint D3_FAMIERYTHROCYTOCIS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_FAMIERYTHROCYTOCIS | 2.131 [1.65, 2.76] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.091 |
During the follow-up period (1.1.1998 — 31.12.2019), 121 out of 403 females with D3_FAMIERYTHROCYTOCIS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_FAMIERYTHROCYTOCIS | 1.315 [1.05, 1.65] | 0.018 |
| Birth year | 0.99 [0.98, 1.0] | 0.029 |
During the follow-up period (1.1.1998 — 31.12.2019), 131 out of 643 males with D3_FAMIERYTHROCYTOCIS died.
Mortality risk
Mortality risk for people of age
years, who have D3_FAMIERYTHROCYTOCIS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.197% | 0.228% |
| 5 | 1.084% | 1.671% |
| 10 | 2.786% | 4.14% |
| 15 | 5.386% | 7.803% |
| 20 | 9.707% | 13.227% |
Relationships between endpoints
↥Index endpoint: D3_FAMIERYTHROCYTOCIS – Familial erythrocytosis
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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