obsolete_sickle cell disease: ['A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.']
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
97 |
4. Check minimum number of eventsNone |
97 |
5. Include endpointsNone |
97 |
6. Filter based on genotype QC (FinnGen only) |
74 |
Control definitions (FinnGen only)
- Control exclude
- D3_HAEMOLYTICANAEMIA
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D55-D59
- Name in latin
- Morbi meniscocytici
Similar endpoints
↥List of similar endpoints to
Sickle-cell disorders
based on the number of shared cases.
Similar with more cases:
- Haemolytic anaemias
- Anaemias
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any operation in hilmo
- 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 | 754 | 385 | 332 |
| Only index persons | 575 | 317 | 258 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 52.37 | 54.03 | 52.53 |
| Only index persons | 56.62 | 57.36 | 55.71 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 74 | 39 | 35 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | 59.69 | 60.19 | 59.13 |
-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
- 97
- Matched controls
- 970
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D57.3
ICD-10 Finland
Sickle-cell trait
+∞
45.4
40
*
N08.2*D57.8
ICD-10 Finland
Glomerular disorders in sickle-cell disorders
+∞
35.6
32
*
N08.2*D89.80
ICD-10 Finland
Immunoglobulin A (IgA) nephropathy
246.2
34.1
33
*
D89.80
ICD-10 Finland
Immunoglobulin A (IgA) deposits in organisms
350.2
27.1
26
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
10.1
25.5
37
56
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
50.7
24.7
29
8
Z94.0
ICD-10 Finland
Kidney transplant status
148.8
22.7
23
*
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
66.4
22.4
25
5
A12AA04
ATC
calcium carbonate; oral
66.4
22.4
25
5
A11CC03
ATC
alfacalcidol; systemic
43.6
21.5
26
8
KAS10
NOMESCO Finland
Allogenic transplantation of kidney from cadaver donor
248.7
20.4
20
*
KA2AT
NOMESCO Finland
Biopsy of transplanted kidney with ultrasound guidance
+∞
19.4
18
*
KA2AE
NOMESCO Finland
Ultrasound examination transplanted kidney
+∞
19.4
18
*
127
Kela drug reimbursment
Transplant complication
124.5
19.4
20
*
Z49.1
ICD-10 Finland
Extracorporeal dialysis
116.8
18.3
19
*
TK800
NOMESCO Finland
Hemodialysis
62.1
17.8
20
*
L04AA06
ATC
mycophenolic acid; systemic
44.0
17.5
21
6
190
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
203.6
17.1
17
*
PBL10
NOMESCO Finland
Construction of arteriovenous fistula from radial artery
58.3
16.7
19
*
N18.0
ICD-10 Finland
End-stage renal disease
102.0
16.1
17
*
D57.1
ICD-10 Finland
Sickle-cell anaemia without crisis
+∞
16.1
15
*
N08.2
ICD-10 Finland
Glomerular disorders in blood diseases and disorders involving the immune mechanism
189.3
16.0
16
*
V03AE01
ATC
polystyrene sulfonate; oral
54.6
15.7
18
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
7.5
15.4
26
45
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
13.1
14.0
25
25
H02AB04
ATC
methylprednisolone; systemic
5.9
13.9
32
75
L04AD02
ATC
tacrolimus; systemic
161.7
13.8
14
*
M04AA01
ATC
allopurinol; systemic
5.8
13.4
31
73
KA1AE
NOMESCO Finland
Kidney ultrasound examination
29.0
13.0
17
7
V03AE03
ATC
lanthanum carbonate; oral
+∞
12.8
12
*
V03AE02
ATC
sevelamer; oral
148.4
12.8
13
*
TPH04
NOMESCO Finland
Cathetrisation of vein
4.9
12.6
39
117
B03XA02
ATC
darbepoetin alfa; parenteral
25.4
12.5
17
8
C09AA02
ATC
enalapril; systemic
4.8
12.3
38
114
137
Kela drug reimbursment
Uraemia requiring dialysis
74.2
11.9
13
*
B03XA01
ATC
erythropoietin; parenteral
74.2
11.9
13
*
K57.3
ICD-10 Finland
Diverticular disease of large intestine without perforation or abscess
5.2
11.8
31
81
PG1DE
NOMESCO Finland
Other extensive ultrasound examination of artery
13.7
11.7
20
18
196
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
11.7
11
*
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
49.5
11.2
13
*
C03CA01
ATC
furosemide; systemic
4.2
11.1
52
210
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
9.4
11.0
23
31
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
11.7
10.9
20
21
KA3AT
NOMESCO Finland
Biopsy of kidney with ultrasound guidance
67.7
10.9
12
*
H05BX01
ATC
cinacalcet; oral
+∞
10.6
10
*
205
Kela drug reimbursment
Chronic hypertension
4.1
10.3
43
159
B05DB
ATC
Hypertonic solutions
61.3
9.9
11
*
B05DA
ATC
Isotonic solutions
61.3
9.9
11
*
Z49.0
ICD-10 Finland
Preparatory care for dialysis
61.3
9.9
11
*
320
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
110.3
9.6
10
*
D57.0
ICD-10 Finland
Sickle-cell anaemia with crisis
+∞
9.5
9
*
321
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
9.5
9
*
L04AD01
ATC
ciclosporin; systemic
40.9
9.2
11
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
4.2
9.1
31
98
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.6
9.0
26
72
I15.1
ICD-10 Finland
Hypertension secondary to other renal disorders
55.1
8.9
10
*
Z49.2
ICD-10 Finland
Other dialysis
55.1
8.9
10
*
L04AX01
ATC
azathioprine; systemic
14.6
8.7
14
11
TK820
NOMESCO Finland
Peritoneal dialysis
98.2
8.6
9
*
N08.39*E11.2
ICD-10 Finland
Non-insulin-dependent diabetes mellitus - Diabetic nephropathy
98.2
8.6
9
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.6
8.4
40
158
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
5.1
8.4
20
47
N18.8
ICD-10 Finland
Other chronic renal failure
24.5
8.2
11
5
D64.9
ICD-10 Finland
Anaemia, unspecified
5.0
8.2
20
48
C08CA01
ATC
amlodipine; oral
3.3
7.9
51
242
ZXE20
NOMESCO Finland
More than three and less than five hours
4.3
7.9
24
69
L01XX05
ATC
hydroxycarbamide; oral
27.5
7.7
10
*
ZXD30
NOMESCO Finland
Difficulties in perfomrming procedure
8.5
7.6
16
22
JAK10
NOMESCO Finland
Laparotomy and insertion of peritoneal dialysis catheter
86.4
7.5
8
*
XPX08
NOMESCO Finland
Intraoperative flow measurement
86.4
7.5
8
*
PBM10
NOMESCO Finland
Closure of arteriovenous fistula of radial artery
+∞
7.4
7
*
N08.2*D89.82
ICD-10 Finland
Nepropathy caused by deposition of the light chain of the immunoglobulins
+∞
7.4
7
*
R4110
NOMESCO Finland
Physiotherapy
3.3
7.2
39
165
ZXD05
NOMESCO Finland
Urgent procedure
3.2
7.1
44
201
WZC10
NOMESCO Finland
Written specialist consultation based on a referral from a dentist or a physician
9.4
7.1
14
17
C02CA01
ATC
prazosin; oral
12.2
7.0
12
11
UJF32
NOMESCO Finland
Coloscopy
3.3
6.9
34
135
L04AA01
ATC
[U] ciclosporin
43.2
6.9
8
*
R50.9
ICD-10 Finland
Fever, unspecified
3.6
6.8
27
93
ZXE10
NOMESCO Finland
More than one and less than three hours
3.1
6.7
45
214
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.0
6.6
54
286
PG5DE
NOMESCO Finland
Ultrasound examination of injection gate to artery or vein with Doppler method
74.5
6.5
7
*
PG5RT
NOMESCO Finland
PTA of arterio-venous shunt for dialysis
74.5
6.5
7
*
D41.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Kidney
19.6
6.4
9
5
D56.3
ICD-10 Finland
Thalassaemia trait
+∞
6.3
6
*
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
13.7
6.2
10
8
ZXA00
NOMESCO Finland
Right side
3.1
6.2
34
143
WZC00
NOMESCO Finland
Treatment plan or consultation
2.9
6.1
44
216
N17.9
ICD-10 Finland
Acute renal failure, unspecified
8.9
6.0
12
15
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
36
75
7.04
18.11
8.9
3.5
264.39
238.91
u/l
0.31
36
69
40
101
6.04
16.31
6.1
1.8
19.73
24.48
%
1.13
35
88
26
47
7.19
14.75
3.7
3.4
44.50
69.00
ml/min/173m2
—
8
23
58
271
3.84
9.70
9.8
2.8
—
—
—
0
0
9
0
+∞
9.52
7.8
0.0
—
—
—
0
0
16
15
12.51
9.20
2.1
1.3
—
—
—
0
0
50
219
3.65
9.09
7.7
2.6
1.18
0.38
e6/l
0.35
40
162
65
340
3.76
8.91
26.4
6.6
1.21
1.22
mmol/l
0.81
60
292
34
118
3.90
8.70
5.2
2.4
3.52
2.03
e6/l
0.24
17
66
34
123
3.72
8.13
5.4
2.2
1.10
0.98
e6/l
0.08
19
71
56
281
3.35
7.91
2.2
1.8
102.09
96.60
pmol/l
0.30
28
136
14
14
11.46
7.83
1.3
1.1
—
—
—
0
0
39
159
3.43
7.71
7.3
2.3
—
—
—
0
0
23
67
4.19
7.39
3.3
3.4
—
—
—
0
0
7
0
+∞
7.38
6.7
0.0
6.01
—
mmol/l
—
7
0
24
79
3.71
6.46
9.8
6.8
103.08
103.58
mmol/l
0.23
24
79
10
10
10.98
5.68
1.2
1.0
—
—
—
0
0
13
23
6.35
5.28
8.0
4.4
102.69
89.87
%
0.88
13
23
37
181
2.69
4.98
3.2
2.0
3.50
3.00
mg/l
0.65
32
160
12
21
6.36
4.94
2.1
1.3
—
—
—
0
0
20
70
3.34
4.84
1.9
1.6
—
—
—
0
0
66
440
2.56
4.49
19.1
9.4
4.36
4.42
e9/l
0.07
60
386
55
339
2.44
4.43
20.1
12.6
1.14
1.24
inr
—
10
94
14
41
3.82
4.37
15.9
10.3
26.09
25.39
mmol/l
0.26
14
41
20
75
3.10
4.31
2.0
1.6
—
—
—
0
0
30
142
2.61
4.23
4.0
3.2
32.68
119.21
ng/l
0.92
25
102
55
344
2.38
4.22
6.7
2.4
—
—
—
0
0
11
22
5.50
4.15
8.9
4.9
225.36
204.77
%
0.23
11
22
10
18
6.06
4.09
1.2
1.7
—
—
—
0
0
58
375
2.36
4.08
7.0
3.5
0.00
0.00
estimate
—
10
80
58
376
2.35
4.04
7.1
3.6
0.00
0.00
estimate
—
10
69
25
115
2.58
3.69
2.0
1.7
—
—
—
0
0
57
377
2.24
3.66
10.2
4.9
0.00
0.00
estimate
—
10
76
76
570
2.54
3.59
14.4
6.8
82.79
77.95
u/l
0.24
71
528
12
34
3.88
3.34
1.8
1.5
—
—
—
0
0
27
136
2.37
3.26
1.8
1.8
1046.27
1262.40
nmol/l
0.73
22
104
19
81
2.67
3.23
9.6
5.9
0.21
1.39
mmol/l
0.46
14
61
6
9
7.02
2.91
1.7
1.0
—
—
—
0
0
9
24
4.02
2.75
1.2
1.4
—
—
—
0
0
37
226
2.03
2.73
3.2
2.2
75.65
55.20
u/l
2.46
37
210
16
68
2.62
2.73
3.7
3.0
43.00
27.30
u/l
1.22
16
56
39
255
1.89
2.30
5.4
2.7
2.35
2.36
mmol/l
0.09
39
223
5
9
5.78
2.24
2.8
5.2
—
—
—
0
0
8
27
3.13
1.98
1.6
1.7
—
—
—
0
0
8
28
3.02
1.91
1.0
1.2
—
—
—
0
0
7
23
3.20
1.83
2.9
2.1
—
—
—
0
0
12
55
2.35
1.76
2.4
1.7
—
—
—
0
0
77
652
1.88
1.72
46.8
16.0
14.91
14.54
%
0.52
77
642
30
196
1.77
1.71
3.5
3.3
469.79
1799.03
ng/l
2.43
22
162
6
19
3.29
1.69
2.0
1.6
—
—
—
0
0
7
25
2.94
1.68
1.0
1.6
0.21
0.24
g/l
—
7
25
7
26
2.82
1.61
2.7
1.5
—
—
—
0
0
7
26
2.82
1.61
2.1
1.5
—
—
—
0
0
7
26
2.82
1.61
1.0
1.7
1.22
1.22
g/l
—
7
26
5
15
3.45
1.54
1.4
1.6
—
—
—
0
0
5
16
3.23
1.45
1.0
1.1
—
—
—
0
0
85
757
1.99
1.42
31.4
13.2
18.93
22.63
mg/l
0.77
80
582
7
29
2.52
1.42
14.3
7.6
23.20
24.77
mmol/l
—
7
29
5
18
2.87
1.30
1.0
1.2
—
—
—
0
0
5
18
2.87
1.30
1.0
1.2
—
—
—
0
0
6
26
2.39
1.20
1.8
1.5
—
—
—
0
0
6
26
2.39
1.20
1.8
1.5
—
—
—
0
0
6
26
2.39
1.20
1.8
1.5
—
—
—
0
0
5
20
2.58
1.16
2.0
1.6
—
—
—
0
0
78
692
1.65
1.13
30.6
12.4
67.82
84.19
ml/min/173m2
3.84
67
546
8
41
2.03
1.11
1.1
1.3
—
—
—
0
0
21
142
1.61
1.03
4.0
2.7
2.42
2.46
mmol/l
0.85
21
125
9
50
1.88
1.00
2.6
1.6
—
—
—
0
0
85
781
1.71
0.94
37.8
15.0
119.75
76.01
umol/l
2.40
85
781
6
28
2.22
0.93
1.8
1.7
—
—
—
0
0
6
33
1.87
0.80
1.2
2.2
—
9301.50
—
0
10
36
293
1.36
0.70
7.4
3.7
—
—
—
0
0
26
205
1.37
0.61
8.5
3.7
0.00
0.01
estimate
—
9
75
6
40
1.53
0.52
2.7
1.4
—
—
—
0
0
5
83
0.58
0.48
6.6
4.8
32.40
33.48
%
—
5
52
7
50
1.43
0.46
3.1
3.2
4.23
4.76
pmol/l
—
7
41
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
0
16
0.00
0.41
0.0
1.4
—
—
—
0
0
6
42
1.46
0.36
2.0
1.3
—
—
—
0
0
6
45
1.35
0.34
1.8
1.6
—
—
—
0
0
32
282
1.20
0.31
3.6
3.6
24.23
26.04
ng/l
0.13
22
196
56
523
1.17
0.27
2.9
3.2
—
—
—
0
0
13
107
1.25
0.23
1.7
2.1
—
—
—
0
0
5
41
1.23
0.22
1.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
16
137
1.20
0.20
1.5
1.6
—
—
—
0
0
47
496
0.90
0.16
4.5
3.0
51.02
47.53
u/l
0.17
47
469
58
555
1.11
0.15
4.2
3.9
14.23
14.94
pmol/l
1.19
52
496
10
85
1.20
0.13
16.7
7.3
—
—
—
0
0
13
118
1.12
0.07
1.8
2.3
—
—
—
0
0
16
171
0.92
0.05
2.4
4.0
28.88
23.71
%
—
5
78
69
679
1.06
0.04
5.2
3.7
1.47
1.27
mmol/l
1.14
63
616
12
129
0.92
0.04
1.2
1.4
—
—
—
0
0
72
712
1.04
0.02
6.2
4.1
4.38
4.53
mmol/l
0.67
66
655
71
707
1.02
0.00
5.9
4.1
1.40
1.43
mmol/l
0.20
65
645
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.8
—
13.43
—
0
8
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
9.34
—
0
9
0
6
0.00
-0.00
0.0
4.8
—
183.67
—
0
6
0
7
0.00
-0.00
0.0
1.6
—
17.50
—
0
7
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_SICKLECELLDIS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SICKLECELLDIS | 1.674 [1.26, 2.22] | < 0.001 |
| Birth year | 0.99 [0.98, 1.0] | 0.031 |
During the follow-up period (1.1.1998 — 31.12.2019), 91 out of 347 females with D3_SICKLECELLDIS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SICKLECELLDIS | 2.204 [1.57, 3.09] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.011 |
During the follow-up period (1.1.1998 — 31.12.2019), 96 out of 302 males with D3_SICKLECELLDIS died.
Mortality risk
Mortality risk for people of age
years, who have D3_SICKLECELLDIS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.132% | 0.379% |
| 5 | 0.85% | 2.853% |
| 10 | 2.005% | 6.648% |
| 15 | 3.874% | 12.489% |
| 20 | 6.564% | 20.377% |
Relationships between endpoints
↥Index endpoint: D3_SICKLECELLDIS – Sickle-cell disorders
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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