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 |
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. |
107 |
4. Check minimum number of eventsNone |
107 |
5. Include endpointsNone |
107 |
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 | 38 | 36 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | 60.42 | 60.79 | 60.04 |
-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
- 98
- Matched controls
- 980
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D57.3
ICD-10 Finland
Sickle-cell trait
+∞
46.6
41
*
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
244.9
34.1
33
*
D89.80
ICD-10 Finland
Immunoglobulin A (IgA) deposits in organisms
348.9
27.1
26
*
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
50.5
24.7
29
8
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
9.0
23.2
37
62
Z94.0
ICD-10 Finland
Kidney transplant status
148.3
22.7
23
*
A12AA04
ATC
calcium carbonate; oral
66.2
22.4
25
5
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
66.2
22.4
25
5
A11CC03
ATC
alfacalcidol; systemic
40.6
22.0
27
9
127
Kela drug reimbursment
Transplant complication
140.1
21.5
22
*
L04AA06
ATC
mycophenolic acid; systemic
49.3
19.6
23
6
KA2AE
NOMESCO Finland
Ultrasound examination transplanted kidney
+∞
19.4
18
*
KAS10
NOMESCO Finland
Allogenic transplantation of kidney from cadaver donor
232.7
19.3
19
*
TK800
NOMESCO Finland
Hemodialysis
65.9
18.8
21
*
KA2AT
NOMESCO Finland
Biopsy of transplanted kidney with ultrasound guidance
+∞
18.3
17
*
Z49.1
ICD-10 Finland
Extracorporeal dialysis
116.5
18.3
19
*
190
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
217.8
18.2
18
*
PBL10
NOMESCO Finland
Construction of arteriovenous fistula from radial artery
58.2
16.7
19
*
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
8.5
16.1
24
36
N18.0
ICD-10 Finland
End-stage renal disease
101.8
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
188.9
16.0
16
*
L04AD02
ATC
tacrolimus; systemic
188.9
16.0
16
*
V03AE01
ATC
polystyrene sulfonate; oral
54.4
15.7
18
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
7.5
15.4
26
45
B03XA02
ATC
darbepoetin alfa; parenteral
27.1
13.5
18
8
H02AB04
ATC
methylprednisolone; systemic
5.6
13.3
32
78
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
12.3
13.2
24
25
KA1AE
NOMESCO Finland
Kidney ultrasound examination
28.9
13.0
17
7
196
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
12.8
12
*
V03AE03
ATC
lanthanum carbonate; oral
+∞
12.8
12
*
V03AE02
ATC
sevelamer; oral
148.2
12.8
13
*
M04AA01
ATC
allopurinol; systemic
5.4
12.3
31
78
137
Kela drug reimbursment
Uraemia requiring dialysis
74.0
11.9
13
*
B03XA01
ATC
erythropoietin; parenteral
74.0
11.9
13
*
C09AA02
ATC
enalapril; systemic
4.7
11.8
38
117
TPH04
NOMESCO Finland
Cathetrisation of vein
4.6
11.7
39
123
K57.3
ICD-10 Finland
Diverticular disease of large intestine without perforation or abscess
4.9
11.4
32
88
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
49.4
11.2
13
*
PG1DE
NOMESCO Finland
Other extensive ultrasound examination of artery
12.2
11.2
20
20
KA3AT
NOMESCO Finland
Biopsy of kidney with ultrasound guidance
67.6
10.9
12
*
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
11.1
10.6
20
22
320
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
122.6
10.6
11
*
321
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
10.6
10
*
H05BX01
ATC
cinacalcet; oral
+∞
10.6
10
*
C03CA01
ATC
furosemide; systemic
3.9
10.2
52
220
Z49.0
ICD-10 Finland
Preparatory care for dialysis
61.3
9.9
11
*
B05DA
ATC
Isotonic solutions
61.3
9.9
11
*
B05DB
ATC
Hypertonic solutions
61.3
9.9
11
*
205
Kela drug reimbursment
Chronic hypertension
3.9
9.7
43
164
D57.0
ICD-10 Finland
Sickle-cell anaemia with crisis
+∞
9.5
9
*
L04AD01
ATC
ciclosporin; systemic
40.8
9.2
11
*
Z49.2
ICD-10 Finland
Other dialysis
55.1
8.9
10
*
I15.1
ICD-10 Finland
Hypertension secondary to other renal disorders
55.1
8.9
10
*
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
5.1
8.7
21
50
TK820
NOMESCO Finland
Peritoneal dialysis
98.1
8.6
9
*
D64.9
ICD-10 Finland
Anaemia, unspecified
4.8
8.1
21
53
L04AX01
ATC
azathioprine; systemic
12.3
8.1
14
13
ZXE20
NOMESCO Finland
More than three and less than five hours
4.3
8.0
24
68
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.8
7.9
31
107
N08.39*E11.2
ICD-10 Finland
Non-insulin-dependent diabetes mellitus - Diabetic nephropathy
49.0
7.8
9
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.4
7.8
40
164
L01XX05
ATC
hydroxycarbamide; oral
27.5
7.7
10
*
R4110
NOMESCO Finland
Physiotherapy
3.3
7.6
41
174
JAK10
NOMESCO Finland
Laparotomy and insertion of peritoneal dialysis catheter
86.3
7.5
8
*
PG5DE
NOMESCO Finland
Ultrasound examination of injection gate to artery or vein with Doppler method
86.3
7.5
8
*
N18.8
ICD-10 Finland
Other chronic renal failure
17.5
7.4
11
7
N08.2*D89.82
ICD-10 Finland
Nepropathy caused by deposition of the light chain of the immunoglobulins
+∞
7.4
7
*
PBM10
NOMESCO Finland
Closure of arteriovenous fistula of radial artery
+∞
7.4
7
*
ZXD30
NOMESCO Finland
Difficulties in perfomrming procedure
8.1
7.4
16
23
WZC10
NOMESCO Finland
Written specialist consultation based on a referral from a dentist or a physician
9.4
7.1
14
17
UJF32
NOMESCO Finland
Coloscopy
3.3
7.0
35
140
C02CA01
ATC
prazosin; oral
12.2
7.0
12
11
ZXD05
NOMESCO Finland
Urgent procedure
3.1
6.9
44
203
L04AA01
ATC
[U] ciclosporin
43.2
6.9
8
*
XPX08
NOMESCO Finland
Intraoperative flow measurement
43.2
6.9
8
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.8
6.8
25
82
C08CA01
ATC
amlodipine; oral
3.0
6.7
51
260
PG5RT
NOMESCO Finland
PTA of arterio-venous shunt for dialysis
74.5
6.5
7
*
TJA35
NOMESCO Finland
Removal of peritoneal dialysis catheter
74.5
6.5
7
*
ZXE10
NOMESCO Finland
More than one and less than three hours
3.0
6.4
45
218
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
J01MA02
ATC
ciprofloxacin; systemic
2.9
6.2
47
237
N39.0
ICD-10 Finland
Urinary tract infection, site not specified
3.5
6.2
25
87
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.9
6.1
46
231
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
31
52
8.26
19.13
4.2
3.4
49.11
67.71
ml/min/173m2
—
9
24
42
141
4.46
11.64
5.7
2.7
0.95
0.96
e6/l
0.01
22
75
40
133
4.39
11.17
5.7
2.9
3.27
2.00
e6/l
0.21
18
67
57
249
4.08
10.80
7.8
2.9
1.19
0.38
e6/l
0.42
45
178
9
0
+∞
9.52
8.8
0.0
—
—
—
0
0
28
79
4.56
9.52
3.3
3.5
—
—
—
0
0
17
17
11.83
9.48
2.2
1.1
141.60
210.00
au/ml
—
5
5
17
18
11.16
9.22
2.2
1.2
—
—
—
0
0
8
0
+∞
8.45
7.1
0.0
5.97
—
mmol/l
—
8
0
70
397
3.67
8.13
30.1
7.1
1.21
1.21
mmol/l
0.14
65
348
15
16
10.84
8.12
1.5
1.1
—
—
—
0
0
63
347
3.28
7.43
2.5
2.0
96.83
99.39
pmol/l
0.14
33
179
42
184
3.24
7.31
8.2
2.3
—
—
—
0
0
30
107
3.60
7.23
10.2
7.4
103.70
103.98
mmol/l
0.10
30
107
16
25
7.43
6.99
2.1
1.3
—
—
—
0
0
21
60
4.18
6.89
14.1
10.7
25.30
25.40
mmol/l
0.04
21
60
27
93
3.63
6.82
2.0
1.8
—
—
—
0
0
12
12
11.20
6.75
1.2
1.0
—
—
—
0
0
26
91
3.53
6.38
2.1
1.8
—
—
—
0
0
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
14
22
7.23
6.12
1.9
3.0
0.49
0.49
iu/ml
—
5
13
13
20
7.31
5.78
10.2
4.8
76.77
65.13
%
1.00
13
20
13
20
7.31
5.78
1.3
1.6
—
—
—
0
0
31
136
2.87
5.14
2.2
1.9
—
—
—
0
0
71
475
2.80
5.01
21.5
10.3
4.29
4.36
e9/l
0.08
64
415
60
375
2.55
4.79
7.5
2.6
—
—
estimate
—
0
0
14
32
4.92
4.66
9.3
3.5
105.64
94.41
%
0.82
14
32
7
5
14.91
4.65
7.4
1.4
—
—
—
0
0
41
218
2.51
4.58
3.5
2.2
3.37
2.81
mg/l
0.82
36
198
15
46
3.67
4.40
1.8
1.5
—
—
—
0
0
81
610
2.89
4.03
16.8
7.8
82.86
80.52
u/l
0.11
76
575
23
97
2.79
4.02
8.7
7.0
-0.55
1.01
mmol/l
0.66
17
77
66
453
2.40
3.99
8.9
3.8
0.21
0.00
estimate
0.47
14
89
66
454
2.39
3.95
8.7
3.7
0.00
0.00
estimate
-0.00
14
99
65
449
2.33
3.79
8.9
3.7
0.07
0.00
estimate
0.47
14
97
12
30
4.41
3.74
10.3
3.9
226.25
205.03
%
0.27
12
30
28
141
2.38
3.39
1.8
1.8
1046.27
1252.31
nmol/l
0.70
22
110
31
165
2.29
3.31
4.8
3.6
28.54
277.35
ng/l
0.78
26
121
18
79
2.57
2.88
4.0
3.2
41.44
27.13
u/l
1.19
18
63
9
25
3.85
2.65
1.7
1.6
—
—
—
0
0
6
11
5.73
2.58
2.8
5.5
3809.00
784.27
mg
—
6
11
10
32
3.36
2.52
1.5
1.6
—
—
—
0
0
9
28
3.43
2.37
1.3
1.4
—
—
—
0
0
38
255
1.80
2.01
3.5
2.4
72.03
55.34
u/l
1.96
38
237
7
22
3.34
1.92
1.1
1.7
—
—
—
0
0
8
28
3.02
1.91
2.6
2.5
—
—
—
0
0
6
17
3.69
1.87
1.3
1.6
—
—
—
0
0
8
29
2.91
1.83
1.0
1.9
1.25
1.19
g/l
—
8
29
8
29
2.91
1.83
1.0
1.8
0.24
0.24
g/l
—
8
29
7
24
3.06
1.76
1.3
1.5
—
—
—
0
0
79
673
1.90
1.71
54.7
19.2
14.74
13.56
%
5.97
79
667
7
26
2.82
1.61
1.7
1.5
—
—
—
0
0
34
237
1.67
1.52
3.7
3.5
673.64
1888.63
ng/l
2.52
27
198
7
28
2.61
1.48
2.9
1.7
—
—
—
0
0
11
54
2.17
1.39
2.5
2.7
64.05
65.73
g/l
0.18
11
49
12
62
2.07
1.34
2.5
1.6
—
—
—
0
0
5
18
2.87
1.30
1.0
1.2
—
—
—
0
0
5
18
2.87
1.30
1.0
1.2
—
—
—
0
0
5
18
2.87
1.30
1.0
1.1
—
—
—
0
0
5
20
2.58
1.16
1.2
1.6
—
—
—
0
0
5
20
2.58
1.16
1.2
1.6
—
—
—
0
0
8
41
2.03
1.11
1.3
1.4
—
—
—
0
0
28
200
1.56
1.10
8.1
3.6
1.01
1.02
kg/l
1.21
21
124
12
73
1.73
0.86
9.9
2.9
0.01
1.41
e6/l
0.60
12
68
41
336
1.38
0.78
8.0
3.8
0.20
0.00
estimate
—
10
78
32
252
1.40
0.77
8.6
3.7
0.00
0.01
estimate
0.49
11
88
9
58
1.61
0.72
3.9
2.1
—
—
—
0
0
5
92
0.52
0.71
6.8
5.0
32.80
33.97
%
—
5
59
81
754
1.43
0.61
38.4
14.9
67.75
83.17
ml/min/173m2
4.14
76
691
60
536
1.31
0.59
3.0
3.3
—
—
—
0
0
8
54
1.52
0.59
3.1
3.6
4.44
4.64
pmol/l
—
8
45
7
50
1.43
0.46
3.9
1.9
—
—
—
0
0
20
159
1.32
0.45
1.4
1.6
—
—
—
0
0
0
15
0.00
0.41
0.0
1.5
—
47.82
—
0
15
0
16
0.00
0.41
0.0
1.6
—
—
—
0
0
15
116
1.35
0.40
1.9
2.3
—
—
—
0
0
6
42
1.46
0.36
2.0
1.3
—
—
—
0
0
28
247
1.19
0.26
8.6
3.6
0.00
0.00
estimate
-0.00
11
81
24
212
1.17
0.22
1.2
1.4
0.82
2.88
u/ml
—
6
50
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
9.02
—
0
10
15
127
1.21
0.21
2.1
2.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
12
137
0.86
0.13
1.3
1.3
4.16
6.44
u/ml
—
7
47
10
86
1.18
0.11
16.8
7.3
—
—
—
0
0
62
602
1.08
0.09
4.9
4.4
14.44
14.95
pmol/l
0.80
57
546
5
48
1.04
0.09
1.0
1.0
—
—
—
0
0
52
537
0.93
0.08
4.9
3.3
64.62
49.05
u/l
0.63
52
514
7
65
1.08
0.08
2.0
1.2
—
—
—
0
0
17
184
0.91
0.08
2.6
4.2
28.88
23.59
%
—
5
88
33
319
1.05
0.04
4.2
3.7
23.35
25.43
ng/l
0.18
26
227
13
135
0.96
0.00
1.5
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
5.2
—
183.83
—
0
6
0
6
0.00
-0.00
0.0
1.3
—
—
—
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
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
13.49
—
0
9
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
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
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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