obsolete_sickle cell disease: ['A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
91 |
4. Check minimum number of eventsNone |
91 |
5. Include endpointsNone |
91 |
6. Filter based on genotype QC (FinnGen only) |
91 |
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 | 91 | 49 | 42 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 55.80 | 55.00 | 56.73 |
-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 (R11)
↥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
- 77
- Matched controls
- 770
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D57.3
ICD-10 Finland
Sickle-cell trait
+∞
31.4
28
*
N08.2*D57.8
ICD-10 Finland
Glomerular disorders in sickle-cell disorders
+∞
31.4
28
*
N08.2*D89.80
ICD-10 Finland
Immunoglobulin A (IgA) nephropathy
227.9
30.0
29
*
D89.80
ICD-10 Finland
Immunoglobulin A (IgA) deposits in organisms
302.5
22.9
22
*
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
45.8
19.3
23
7
A11CC03
ATC
alfacalcidol; systemic
47.1
17.8
21
6
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
53.0
17.3
20
5
L04AA06
ATC
mycophenolic acid; systemic
107.6
16.3
17
*
A12AA04
ATC
calcium carbonate; oral
49.5
16.3
19
5
Z94.0
ICD-10 Finland
Kidney transplant status
71.5
15.5
17
*
N08.2
ICD-10 Finland
Glomerular disorders in blood diseases and disorders involving the immune mechanism
183.4
15.0
15
*
KAS10
NOMESCO Finland
Allogenic transplantation of kidney from cadaver donor
183.4
15.0
15
*
Z49.1
ICD-10 Finland
Extracorporeal dialysis
66.2
14.4
16
*
KA2AE
NOMESCO Finland
Ultrasound examination transplanted kidney
168.5
13.9
14
*
TK800
NOMESCO Finland
Hemodialysis
49.6
13.8
16
*
127
Kela drug reimbursment
Transplant complication
49.6
13.8
16
*
PBL10
NOMESCO Finland
Construction of arteriovenous fistula from radial artery
61.1
13.4
15
*
190
Kela drug reimbursment
Lanthanum carbonate, sevelamer and sucroferric oxyhydroxide
84.2
13.1
14
*
V03AE01
ATC
polystyrene sulfonate; oral
84.2
13.1
14
*
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
17.5
12.8
20
15
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
14.6
11.9
20
18
KA2AT
NOMESCO Finland
Biopsy of transplanted kidney with ultrasound guidance
140.1
11.8
12
*
D57.1
ICD-10 Finland
Sickle-cell anaemia without crisis
+∞
11.8
11
*
N18.0
ICD-10 Finland
End-stage renal disease
42.1
11.7
14
*
B03XA01
ATC
erythropoietin; parenteral
38.5
10.7
13
*
KA1AE
NOMESCO Finland
Kidney ultrasound examination
38.5
10.7
13
*
V03AE02
ATC
sevelamer; oral
126.5
10.7
11
*
L04AD02
ATC
tacrolimus; systemic (calcineurin inhibitors)
46.6
10.3
12
*
KA3AT
NOMESCO Finland
Biopsy of kidney with ultrasound guidance
113.4
9.6
10
*
V03AE03
ATC
lanthanum carbonate; oral
113.4
9.6
10
*
PG1DE
NOMESCO Finland
Other extensive ultrasound examination of artery
15.2
9.3
15
12
137
Kela drug reimbursment
Uraemia requiring dialysis
56.7
8.9
10
*
B03XA02
ATC
darbepoetin alfa; parenteral
31.6
8.7
11
*
H02AB04
ATC
methylprednisolone; systemic
5.7
8.7
27
66
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
5.9
8.7
26
61
C08CA01
ATC
amlodipine; oral
4.4
8.6
41
157
196
Kela drug reimbursment
Paricalcitol and cinacalcet
100.6
8.6
9
*
D57.0
ICD-10 Finland
Sickle-cell anaemia with crisis
+∞
8.5
8
*
ZXD30
NOMESCO Finland
Difficulties in perfomrming procedure
13.9
8.5
14
12
C03CA01
ATC
furosemide; systemic
4.4
8.5
43
172
C09AA02
ATC
enalapril; systemic
4.6
8.0
32
102
M04AA01
ATC
allopurinol; systemic
5.5
7.9
25
62
C02CA01
ATC
prazosin; oral
21.0
7.9
11
6
L04AX01
ATC
azathioprine; systemic
12.7
7.6
13
12
ZXE20
NOMESCO Finland
More than three and less than five hours
5.9
7.6
22
49
I15.1
ICD-10 Finland
Hypertension secondary to other renal disorders
88.2
7.6
8
*
L01XX05
ATC
hydroxycarbamide; oral
88.2
7.6
8
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
7.2
7.5
18
31
321
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
7.4
7
*
L04AD01
ATC
ciclosporin; systemic
+∞
7.4
7
*
H05BX01
ATC
cinacalcet; oral
+∞
7.4
7
*
Z49.2
ICD-10 Finland
Other dialysis
+∞
7.4
7
*
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
22.6
7.3
10
5
N08.39*E11.2
ICD-10 Finland
Non-insulin-dependent diabetes mellitus - Diabetic nephropathy
33.5
7.3
9
*
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
8.2
6.9
15
22
L04AA01
ATC
[U] ciclosporin; systemic
44.1
6.9
8
*
B05DA
ATC
Isotonic solutions
44.1
6.9
8
*
B05DB
ATC
Hypertonic solutions
44.1
6.9
8
*
TPH04
NOMESCO Finland
Cathetrisation of vein
4.2
6.7
28
92
N17.9
ICD-10 Finland
Acute renal failure, unspecified
12.6
6.5
11
10
Z49.0
ICD-10 Finland
Preparatory care for dialysis
75.9
6.5
7
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
4.6
6.4
23
65
C09CA01
ATC
losartan; oral
3.8
6.3
32
122
N08.2*D89.82
ICD-10 Finland
Nepropathy caused by deposition of the light chain of the immunoglobulins
+∞
6.3
6
*
PG5RT
NOMESCO Finland
PTA of arterio-venous shunt for dialysis
+∞
6.3
6
*
PG5DE
NOMESCO Finland
Ultrasound examination of injection gate to artery or vein with Doppler method
+∞
6.3
6
*
205
Kela drug reimbursment
Chronic hypertension
3.5
6.2
37
161
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
6.6
6.1
15
27
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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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