Hereditary spherocytosis

D3_HERESPHERO

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 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.

101

4. Check minimum number of events

None

101

5. Include endpoints

None

101

6. Filter based on genotype QC (FinnGen only)

99

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 99 57 42
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 25.70 24.56 27.24

-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
101
Matched controls
1010
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D58.0
ICD-10 Finland
Hereditary spherocytosis
+∞
86.2
70
*
28200
ICD-8 Finland
Hereditary haemolytic anaemias, Familial acholuric jaundice
+∞
36.7
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
97.9
8.6
9
*
JKA21
NOMESCO Finland
Laparoscopic cholecystectomy
4.5
7.4
20
52
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
4.3
6.9
20
55
6753
FHL
Transabdominal splenectomy
+∞
6.3
6
*
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
*

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
35
52
9.77
24.28
5.7
3.0
159.80
74.49
e9/l
6.75
27
37
12
7
19.20
8.30
1.3
1.7
—
—
—
0
0
68
405
3.08
6.63
6.4
5.8
0.06
0.04
e9/l
3.94
60
359
68
405
3.08
6.63
6.4
5.8
0.80
0.58
e9/l
2.76
60
362
75
475
3.25
6.50
8.9
9.3
5.07
4.02
e9/l
2.21
65
421
69
419
3.04
6.41
6.6
6.6
0.21
0.20
e9/l
0.29
62
379
69
420
3.03
6.37
6.5
5.9
2.30
1.95
e9/l
1.80
63
381
65
389
2.88
6.09
7.0
6.1
—
—
—
0
0
33
166
2.47
4.06
2.2
1.5
22.25
23.76
nmol/l
0.20
27
139
38
204
2.38
4.05
4.2
6.8
—
—
—
0
0
45
275
2.15
3.42
2.2
1.8
98.75
96.11
pmol/l
0.16
26
140
50
324
2.08
3.21
4.9
6.0
1.22
1.22
mmol/l
0.04
45
299
41
247
2.11
3.19
2.4
3.2
2.38
2.36
mmol/l
0.49
30
220
54
363
2.05
3.11
8.4
7.9
0.00
0.00
e9/l
0.55
43
292
16
69
2.57
2.64
1.5
1.3
—
—
—
0
0
32
188
2.03
2.59
2.0
2.8
344.81
4781.78
umol/l
0.79
26
165
9
28
3.42
2.37
1.6
4.9
21.56
20.18
s
—
9
22
22
117
2.13
2.29
3.3
2.4
2.44
2.43
mmol/l
0.07
17
96
10
35
3.06
2.28
1.7
2.3
—
—
—
0
0
15
68
2.42
2.24
6.7
6.0
5.29
5.06
kpa
0.45
15
63
72
575
1.88
2.14
10.3
7.1
74.44
80.22
u/l
0.92
66
535
14
65
2.34
1.99
9.1
7.0
105.50
103.74
mmol/l
1.15
14
65
15
72
2.27
1.98
1.5
6.7
—
—
—
0
0
22
126
1.95
1.87
1.5
1.9
344.77
449.74
pmol/l
1.66
22
103
26
158
1.87
1.86
2.0
2.3
1.13
0.79
mg/l
0.39
14
121
11
47
2.50
1.85
1.5
6.4
24.27
23.87
mmol/l
0.15
11
47
6
18
3.47
1.77
1.5
1.3
—
—
—
0
0
13
62
2.26
1.74
2.8
2.8
10.87
9.81
g/l
0.63
13
57
73
605
1.75
1.70
3.3
3.9
14.56
14.65
pmol/l
0.13
66
549
6
19
3.29
1.69
1.5
1.6
—
—
—
0
0
47
349
1.65
1.65
5.7
7.1
1.21
1.22
mmol/l
0.56
41
295
31
210
1.69
1.53
2.1
3.5
0.15
0.20
e6/l
0.24
23
161
9
37
2.57
1.52
9.3
6.9
0.88
0.65
%
—
9
37
9
38
2.50
1.50
9.3
6.7
2.37
1.64
%
—
9
38
43
320
1.60
1.46
8.3
10.2
1.06
1.17
inr
1.46
12
93
5
16
3.23
1.45
6.4
4.2
6.80
9.28
u/ml
—
5
16
6
23
2.71
1.39
1.5
1.1
0.50
3.00
e6/l
—
6
18
21
312
0.59
1.34
1.7
2.7
—
—
—
0
0
8
35
2.39
1.30
1.5
2.0
—
—
—
0
0
5
18
2.87
1.30
1.0
1.4
—
—
—
0
0
11
56
2.08
1.27
4.3
9.0
24.15
24.73
mmol/l
0.20
11
56
6
25
2.49
1.26
1.3
1.1
—
—
—
0
0
6
25
2.49
1.26
1.3
1.1
—
—
—
0
0
6
25
2.49
1.26
1.5
1.8
—
—
—
0
0
20
127
1.72
1.23
1.2
1.3
14.91
5.94
u/ml
—
8
51
5
19
2.71
1.23
1.4
1.2
—
—
—
0
0
8
38
2.20
1.21
3.6
4.3
—
—
—
0
0
33
240
1.56
1.20
2.1
3.5
11.09
48.50
e6/l
0.86
25
188
16
97
1.77
1.15
2.0
1.6
—
—
—
0
0
30
216
1.55
1.14
2.1
3.2
—
—
—
0
0
5
21
2.45
1.10
2.4
3.5
—
—
—
0
0
12
68
1.87
1.06
6.9
8.3
—
—
—
0
0
9
47
2.00
1.05
1.9
4.4
—
—
—
0
0
68
587
1.48
1.04
4.7
3.7
11.67
9.85
mm/h
0.41
60
544
39
306
1.45
0.97
1.8
2.0
—
—
—
0
0
26
188
1.52
0.96
1.6
1.5
2.24
2.48
g/l
0.25
13
114
21
145
1.57
0.95
1.4
2.9
479.81
568.42
mosm/kgh2o
0.94
16
123
19
128
1.60
0.94
2.4
3.6
0.83
2.53
e6/l
1.15
12
83
12
72
1.76
0.90
1.3
1.8
—
—
—
0
0
25
182
1.50
0.89
5.4
4.0
—
—
—
0
0
92
862
1.75
0.87
16.3
13.2
65.24
72.72
umol/l
4.11
92
862
8
46
1.80
0.85
1.4
1.3
—
—
—
0
0
13
82
1.67
0.83
1.2
1.4
—
—
—
0
0
11
67
1.72
0.79
1.4
1.3
—
—
—
0
0
6
34
1.81
0.77
1.2
1.2
—
—
—
0
0
5
24
2.14
0.75
2.4
1.2
—
—
—
0
0
15
101
1.57
0.75
1.5
1.2
—
—
—
0
0
7
42
1.72
0.70
1.1
1.1
—
—
—
0
0
23
174
1.42
0.68
3.2
4.0
—
—
—
0
0
5
28
1.83
0.67
1.4
1.5
—
—
—
0
0
58
511
1.32
0.64
3.2
3.4
—
—
—
0
0
34
278
1.34
0.63
3.2
4.3
165.49
22.89
e6/l
0.58
25
201
14
97
1.51
0.63
1.1
1.2
—
—
—
0
0
6
35
1.76
0.59
1.7
5.7
135.67
127.43
g/l
—
6
35
6
96
0.60
0.55
2.5
1.8
—
—
—
0
0
10
66
1.57
0.55
3.1
5.2
—
—
—
0
0
17
127
1.41
0.54
3.1
4.6
0.83
0.81
mmol/l
0.54
17
120
7
46
1.56
0.49
1.0
1.6
—
—
—
0
0
15
112
1.40
0.48
2.8
2.3
0.85
0.66
ug/l
—
6
58
30
251
1.28
0.47
1.6
1.5
—
—
—
0
0
8
56
1.46
0.44
1.5
1.2
143.13
153.87
u/ml
—
8
48
80
754
1.29
0.43
21.7
15.2
346.06
333.86
g/l
11.66
80
749
0
16
0.00
0.41
0.0
3.4
—
17.09
—
0
16
88
841
1.36
0.41
17.0
11.9
19.90
21.43
mg/l
0.22
73
639
5
34
1.49
0.41
1.8
1.6
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
78
735
1.27
0.40
4.3
4.4
1.76
1.85
mu/l
0.34
73
679
21
172
1.28
0.38
1.5
1.8
—
—
—
0
0
90
866
1.36
0.36
15.2
11.2
—
—
—
0
0
6
42
1.46
0.36
1.3
1.1
—
—
—
0
0
6
42
1.46
0.36
1.2
1.3
—
—
—
0
0
18
219
0.78
0.36
3.3
3.1
—
—
—
0
0
29
250
1.22
0.35
2.6
3.4
15.78
44.62
ng/l
0.89
14
154
43
386
1.20
0.34
4.3
5.3
0.00
0.00
estimate
—
8
68
79
751
1.24
0.33
2.8
3.6
1.24
1.29
mmol/l
0.22
73
692
16
131
1.26
0.29
1.5
1.7
—
—
—
0
0
10
76
1.35
0.29
1.0
1.1
—
—
—
0
0
12
95
1.30
0.28
1.3
1.3
—
—
—
0
0
43
393
1.16
0.27
2.9
3.8
0.00
0.00
estimate
—
9
67
22
190
1.20
0.26
3.1
3.4
—
—
—
0
0
28
248
1.18
0.25
3.1
2.3
—
—
—
0
0
12
97
1.27
0.24
3.2
7.7
1.08
1.18
mmol/l
0.58
12
87
19
163
1.20
0.24
3.3
3.4
21.44
139.78
mg/l
1.50
11
100
7
92
0.74
0.23
1.3
1.4
—
—
—
0
0
42
387
1.15
0.23
2.9
3.7
0.00
0.00
estimate
—
8
72
5
41
1.23
0.22
1.0
1.7
—
—
—
0
0
11
89
1.26
0.22
1.2
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
2.2
—
—
—
0
0
0
11
0.00
0.21
0.0
6.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
119.44
—
0
10
10
80
1.28
0.21
5.1
2.1
441.80
373.53
nmol/l
—
10
73
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
3.2
—
—
—
0
0
21
235
0.87
0.18
2.0
3.0
—
—
—
0
0
80
775
1.16
0.18
3.3
3.9
1.30
1.48
mmol/l
3.65
75
721
11
130
0.83
0.17
1.5
1.5
—
—
—
0
0
24
221
1.11
0.12
1.7
2.1
—
—
—
0
0
22
204
1.10
0.09
2.5
3.8
0.00
0.00
estimate
—
9
70
5
48
1.04
0.09
1.4
1.6
—
—
—
0
0
57
553
1.07
0.08
4.6
4.5
—
—
—
0
0
5
62
0.80
0.08
1.8
2.0
—
—
—
0
0
7
68
1.03
0.08
2.3
3.1
—
—
—
0
0
12
131
0.90
0.06
1.4
1.7
—
—
—
0
0
18
172
1.06
0.02
3.7
3.9
4.25
16.13
mg/mmol
1.04
11
100
70
694
1.03
0.00
4.3
4.7
29.89
38.50
mmol/mol
8.57
61
655
73
735
0.98
0.00
3.7
3.9
5.74
5.79
mmol/l
0.18
68
683
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
1.01
—
0
8
0
9
0.00
0.00
0.0
16.2
—
1989.33
—
0
9
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
7.6
—
979.33
—
0
9
5
54
0.92
-0.00
1.4
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
5.84
—
0
7
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
6
65
0.92
-0.00
1.0
1.2
—
113.93
—
0
21
0
7
0.00
-0.00
0.0
1.3
—
213.83
—
0
7
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
11.62
—
0
6
5
53
0.94
-0.00
4.4
3.8
1.28
1.23
mmol/l
—
5
47
0
6
0.00
-0.00
0.0
2.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
5
58
0.86
-0.00
2.2
5.0
—
—
—
0
0
5
54
0.92
-0.00
1.4
1.5
—
—
—
0
0
5
54
0.92
-0.00
1.4
1.5
—
—
—
0
0
5
54
0.92
-0.00
1.2
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
1.47
—
0
7
5
54
0.92
-0.00
1.4
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
42.43
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
1649.20
—
0
5

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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