Hereditary spherocytosis

D3_HERESPHERO

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 D58.0
  • Hospital discharge: ICD-9 2820A
  • Hospital discharge: ICD-8 2820
  • Cause of death: ICD-10 D58.0
  • Cause of death: ICD-9 2820A
  • Cause of death: ICD-8 2820

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

109

4. Check minimum number of events

None

109

5. Include endpoints

None

109

6. Filter based on genotype QC (FinnGen only)

101

Control definitions (FinnGen only)

Control exclude
D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D58
Name in latin
Sphaerocytosis hereditaria

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1328 648 674
Only index persons 1089 542 547
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 12.11 13.89 10.13
Only index persons 13.65 15.91 11.41

-FinnGen-

Key figures

All Female Male
Number of individuals 101 58 43
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 25.98 24.70 27.70

-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
104
Matched controls
1040
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D58.0
ICD-10 Finland
Hereditary spherocytosis
+∞
90.1
73
*
28200
ICD-8 Finland
Hereditary haemolytic anaemias, Familial acholuric jaundice
+∞
36.6
33
*
2820A
ICD-9 Finland
Hereditary haemolytic anaemias, Hereditary spherocytosis
+∞
19.4
18
*
JMA11
NOMESCO Finland
Laparoscopic total splenectomy
+∞
11.7
11
*
JMA10
NOMESCO Finland
Transabdominal total splenectomy
97.6
8.5
9
*
JKA21
NOMESCO Finland
Laparoscopic cholecystectomy
4.3
7.0
20
54
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
4.1
6.5
20
57
O99.1
ICD-10 Finland
Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium
+∞
6.3
6
*
6753
FHL
Transabdominal splenectomy
+∞
6.3
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
40
66
9.22
25.49
6.2
3.0
169.96
72.62
e9/l
7.59
29
45
14
8
19.95
9.71
1.4
1.6
—
—
—
0
0
75
465
3.20
6.78
7.7
6.5
0.77
0.57
e9/l
2.62
67
407
75
467
3.17
6.69
7.7
6.5
0.06
0.04
e9/l
5.01
67
407
76
484
3.12
6.38
7.9
7.2
0.21
0.19
e9/l
0.32
69
431
80
525
3.27
6.35
10.2
10.2
5.15
4.01
e9/l
2.68
70
459
75
479
3.03
6.17
7.8
6.5
2.25
1.93
e9/l
1.65
69
428
52
296
2.51
5.05
8.1
6.6
—
—
—
0
0
26
115
2.68
4.14
2.2
3.0
34.56
23.88
%
2.02
26
108
54
347
2.16
3.62
8.6
5.5
38.18
36.70
g/l
0.87
49
331
40
230
2.20
3.53
2.6
1.7
23.19
22.90
nmol/l
0.04
33
201
60
417
2.04
3.12
10.0
9.6
0.00
0.00
e9/l
0.56
49
336
52
346
2.01
3.03
2.7
2.0
94.52
97.40
pmol/l
0.21
31
179
44
276
2.03
3.02
4.2
5.8
—
—
—
0
0
7
14
5.27
2.78
1.0
1.1
—
—
—
0
0
12
43
3.02
2.75
1.6
2.3
—
—
—
0
0
18
83
2.41
2.59
1.8
1.3
—
—
—
0
0
80
641
2.07
2.53
11.5
7.9
73.12
80.27
u/l
1.54
75
603
53
372
1.87
2.50
6.1
6.8
1.22
1.22
mmol/l
0.06
48
348
15
65
2.53
2.45
2.3
6.0
24.49
23.94
mmol/l
0.32
15
65
19
94
2.25
2.34
2.2
6.3
7.36
7.39
ph
—
7
56
30
180
1.94
2.25
2.0
2.3
1.30
0.84
mg/l
0.67
19
140
10
37
2.88
2.14
1.5
4.1
21.30
19.52
s
—
10
31
18
91
2.18
2.11
9.3
8.6
104.83
104.37
mmol/l
0.15
18
91
10
39
2.73
2.00
1.1
1.4
13.52
5.75
u/l
—
5
30
15
72
2.27
1.98
2.7
2.8
10.99
10.22
g/l
0.43
15
67
33
215
1.78
1.89
2.2
2.9
341.96
337.74
umol/l
0.09
27
193
7
23
3.19
1.83
1.0
1.4
—
—
—
0
0
7
23
3.19
1.83
1.4
1.3
—
—
—
0
0
42
297
1.69
1.79
2.9
3.2
2.38
2.36
mmol/l
0.49
35
273
16
83
2.10
1.76
1.3
1.9
—
—
—
0
0
53
402
1.65
1.71
6.2
7.7
1.21
1.22
mmol/l
0.60
44
345
7
25
2.93
1.68
1.4
1.7
—
—
—
0
0
10
43
2.46
1.64
1.5
2.0
—
—
—
0
0
33
225
1.68
1.58
5.2
4.3
—
—
—
0
0
7
27
2.70
1.54
1.3
1.1
—
—
—
0
0
7
27
2.70
1.54
1.3
1.1
—
—
—
0
0
5
15
3.45
1.54
2.0
2.0
—
—
—
0
0
6
21
2.97
1.53
1.3
1.4
—
—
—
0
0
9
38
2.50
1.50
3.3
4.3
—
—
—
0
0
15
82
1.97
1.44
8.2
8.1
5.34
5.09
kpa
0.73
15
77
15
82
1.97
1.44
8.2
8.1
7.41
7.43
ph
—
9
42
12
62
2.06
1.34
1.4
1.5
9.98
25.20
iu/l
—
6
51
9
44
2.14
1.30
2.6
3.9
0.39
0.65
%
—
9
44
47
365
1.52
1.28
8.9
10.2
1.23
1.15
inr
0.62
41
292
10
49
2.15
1.26
10.4
10.2
0.83
0.62
%
—
10
49
51
404
1.51
1.26
5.1
2.8
—
—
estimate
—
0
0
33
239
1.56
1.22
2.3
3.7
0.18
0.20
e6/l
0.09
25
177
22
144
1.67
1.21
1.5
1.9
344.77
466.92
pmol/l
2.02
22
118
10
50
2.11
1.21
10.5
10.0
2.12
1.45
%
—
10
50
5
20
2.57
1.16
6.6
3.9
6.80
7.91
u/ml
—
5
20
32
233
1.54
1.15
1.5
1.5
2.58
2.46
g/l
0.10
18
143
18
113
1.72
1.15
2.1
1.7
—
—
—
0
0
7
33
2.20
1.08
1.4
1.8
—
2.20
—
0
8
9
47
2.00
1.05
1.7
1.9
—
—
—
0
0
14
85
1.75
1.00
7.6
10.4
—
—
—
0
0
7
36
2.01
0.99
1.1
1.2
—
—
—
0
0
16
102
1.67
0.97
1.1
1.6
—
—
—
0
0
37
290
1.43
0.91
2.4
3.7
11.04
43.40
e6/l
0.89
29
223
29
372
0.69
0.87
1.9
3.1
—
—
—
0
0
8
45
1.84
0.86
1.8
1.7
—
—
—
0
0
11
174
0.59
0.86
1.5
1.6
—
—
—
0
0
76
682
1.42
0.82
3.7
4.4
14.56
14.64
pmol/l
0.12
69
623
15
99
1.60
0.81
1.3
1.4
—
—
—
0
0
17
116
1.56
0.80
1.1
1.2
—
—
—
0
0
28
214
1.42
0.78
5.3
4.0
—
—
—
0
0
17
117
1.54
0.78
1.5
1.2
—
—
—
0
0
11
68
1.69
0.75
6.5
11.9
25.15
24.59
mmol/l
0.21
11
68
40
329
1.35
0.72
3.7
4.8
142.91
24.45
e6/l
0.55
29
231
21
155
1.44
0.70
1.3
1.3
13.37
5.82
u/ml
—
9
57
5
27
1.89
0.69
7.2
4.2
4561.44
1411.27
u/ml
—
5
22
20
147
1.45
0.68
2.7
3.8
0.83
2.64
e6/l
1.26
12
84
21
156
1.43
0.68
3.0
4.4
0.83
0.80
mmol/l
0.79
21
148
30
240
1.35
0.64
2.4
3.4
—
—
estimate
—
0
0
31
252
1.33
0.59
1.7
2.2
—
—
—
0
0
0
23
0.00
0.59
0.0
1.2
—
—
—
0
0
25
198
1.35
0.56
1.6
1.8
—
—
—
0
0
11
74
1.54
0.56
1.2
1.4
—
—
—
0
0
35
292
1.30
0.56
1.6
1.6
—
—
—
0
0
6
100
0.58
0.55
2.7
1.7
—
—
—
0
0
40
341
1.28
0.54
2.1
2.1
—
—
—
0
0
19
146
1.37
0.51
1.5
1.8
—
—
—
0
0
35
296
1.27
0.50
3.1
2.3
—
—
—
0
0
7
46
1.56
0.49
1.7
5.2
126.86
127.61
g/l
—
7
46
7
49
1.46
0.47
1.0
1.6
—
—
—
0
0
7
49
1.46
0.47
1.3
1.1
—
—
—
0
0
53
474
1.24
0.46
3.2
4.0
0.00
0.00
estimate
—
9
86
8
55
1.49
0.44
1.0
1.7
—
—
—
0
0
52
467
1.23
0.43
3.2
3.9
0.00
0.00
estimate
—
9
88
5
32
1.59
0.43
6.2
4.2
36.12
36.94
°c
—
5
32
28
235
1.26
0.42
3.6
3.9
7.39
7.39
ph
0.11
20
170
52
470
1.21
0.39
3.2
3.9
0.00
0.00
estimate
—
9
91
84
797
1.28
0.39
3.0
4.0
1.24
1.28
mmol/l
0.17
78
737
0
19
0.00
0.39
0.0
3.5
—
17.39
—
0
19
33
286
1.23
0.37
2.9
3.4
24.18
41.02
ng/l
0.46
16
178
13
99
1.36
0.37
4.5
2.2
434.00
387.22
nmol/l
0.76
13
93
30
258
1.23
0.36
1.3
1.3
0.68
1.18
u/ml
—
5
68
32
365
0.82
0.36
2.2
1.9
1.21
1.41
mmol/l
0.68
27
312
24
282
0.81
0.36
2.1
3.0
0.00
0.00
estimate
—
8
72
42
375
1.20
0.35
3.2
3.8
6.18
6.32
ph
0.29
22
205
12
92
1.34
0.33
1.0
1.1
—
—
—
0
0
10
75
1.37
0.31
3.2
4.9
7.38
7.36
ph
—
5
60
25
215
1.21
0.30
2.9
3.9
1.02
1.02
kg/l
0.12
16
137
19
225
0.81
0.30
4.1
4.3
6.53
14.36
mg/mmol
0.79
12
135
16
131
1.26
0.29
3.3
2.5
0.85
0.70
ug/l
—
6
65
8
63
1.29
0.28
1.3
1.6
—
—
—
0
0
64
602
1.16
0.27
4.9
4.7
—
—
—
0
0
14
115
1.25
0.25
3.6
7.8
1.09
1.17
mmol/l
0.54
14
104
94
915
1.28
0.24
16.0
12.1
—
—
—
0
0
5
37
1.37
0.24
1.0
1.3
—
—
—
0
0
5
39
1.30
0.23
1.8
2.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
118.67
—
0
11
0
10
0.00
0.21
0.0
17.4
—
1822.60
—
0
10
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
5.6
—
92.52
—
0
12
0
12
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
3.2
—
—
—
0
0
12
99
1.24
0.20
1.5
1.3
—
—
—
0
0
20
227
0.85
0.20
3.6
3.5
25.83
105.64
mg/l
1.74
13
140
6
51
1.19
0.20
1.5
1.3
—
—
—
0
0
6
52
1.16
0.19
1.5
1.1
—
—
—
0
0
18
157
1.18
0.19
4.2
3.2
98.33
253.32
ng/l
0.64
12
106
7
58
1.22
0.18
2.1
1.5
—
0.44
—
0
27
8
67
1.21
0.17
1.3
1.6
—
—
—
0
0
8
69
1.17
0.17
1.3
1.6
—
—
—
0
0
8
69
1.17
0.17
1.6
1.2
143.13
360.95
u/ml
—
8
62
8
69
1.17
0.17
1.3
1.6
—
—
—
0
0
8
69
1.17
0.17
1.3
1.6
—
—
—
0
0
8
72
1.12
0.16
2.1
1.8
—
0.00
estimate
—
0
18
23
250
0.90
0.12
3.3
3.1
—
—
—
0
0
76
780
0.90
0.12
5.1
5.3
29.82
38.00
mmol/mol
9.56
68
741
6
72
0.82
0.08
1.2
1.3
—
105.52
—
0
24
91
900
1.09
0.04
20.5
13.6
18.79
21.50
mg/l
0.57
78
718
78
769
1.06
0.04
24.8
17.0
14.42
13.40
%
4.09
78
762
12
111
1.09
0.04
1.2
1.4
—
—
—
0
0
26
251
1.05
0.03
3.2
3.2
—
—
—
0
0
26
251
1.05
0.03
2.7
3.8
0.00
0.00
estimate
—
10
85
35
359
0.96
0.02
2.7
3.6
0.00
0.01
estimate
—
8
75
15
151
0.99
0.00
1.4
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
32.76
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
10.20
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
5.84
—
0
7
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
7
73
0.96
-0.00
2.3
3.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
11.1
—
994.11
—
0
9
5
58
0.86
-0.00
4.4
4.2
1.28
1.23
mmol/l
—
5
51
0
6
0.00
-0.00
0.0
1.0
—
1679.67
—
0
6
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
44.81
—
0
8
0
5
0.00
-0.00
0.0
6.0
—
4.60
—
0
5
5
58
0.86
-0.00
1.2
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.6
—
0.71
—
0
7
0
9
0.00
-0.00
0.0
2.4
—
10.56
—
0
9
0
5
0.00
-0.00
0.0
3.0
—
55.20
—
0
5
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
6
64
0.93
-0.00
2.2
4.9
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
213.83
—
0
7
0
6
0.00
-0.00
0.0
1.5
—
10.13
—
0
6

Mortality – FinRegistry

Association

Association between endpoint D3_HERESPHERO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_HERESPHERO.

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: D3_HERESPHERO – Hereditary spherocytosis

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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