obsolete_factor VIII deficiency: An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
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. |
100 |
4. Check minimum number of eventsNone |
100 |
5. Include endpointsNone |
100 |
6. Filter based on genotype QC (FinnGen only) |
97 |
Control definitions (FinnGen only)
- Control exclude
- D3_COAGDEF_PURPUR_HAEMORRHAGIC
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D65-D69
- Name in latin
- Deficientia hereditaria factoris VIII
Similar endpoints
↥List of similar endpoints to
Hereditary factor VIII deficiency
based on the number of shared cases.
Similar with more cases:
- Coagulation defects, purpura and other haemorrhagic conditions
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 723 | 205 | 511 |
| Only index persons | 586 | 187 | 399 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 19.22 | 36.79 | 11.69 |
| Only index persons | 19.32 | 35.25 | 11.86 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 97 | 41 | 56 |
| Unadjusted period prevalence (%) | 0.02 | 0.01 | 0.03 |
| Median age at first event (years) | 24.17 | 34.63 | 16.52 |
-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
- 100
- Matched controls
- 1000
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D66
ICD-10 Finland
Hereditary factor VIII deficiency
+∞
118.7
89
*
B02AA02
ATC
tranexamic acid; systemic
21.0
55.6
63
75
126
Kela drug reimbursment
Chronic coagulation defects
+∞
52.9
46
*
B02BD02
ATC
coagulation factor VIII; parenteral
+∞
40.4
36
*
2860A
ICD-9 Finland
Coagulation defects, Congenital factor VIII disorder
+∞
27.3
25
*
M362, D66,
ICD-10 Finland
+∞
26.2
24
*
28600
ICD-8 Finland
Coagulation defects, Haemophilia
+∞
23.9
22
*
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
11.8
23.6
28
32
ZX120
NOMESCO Finland
Intravenous
9.1
19.9
29
43
D68.0
ICD-10 Finland
Von Willebrand disease
+∞
13.9
13
*
M01AE01
ATC
ibuprofen; systemic, rectal
0.2
13.5
47
807
B18.2
ICD-10 Finland
Chronic viral hepatitis C
33.6
13.5
17
6
M36.2
ICD-10 Finland
Haemophilic arthropathy
+∞
12.8
12
*
B02BX06
ATC
emicizumab; parenteral
+∞
12.8
12
*
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
12.1
12.6
23
24
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
26.8
10.6
14
6
M19.2
ICD-10 Finland
Other secondary arthrosis
61.1
9.9
11
*
D68.8
ICD-10 Finland
Other specified coagulation defects
+∞
9.5
9
*
Z31.5
ICD-10 Finland
Genetic counselling
7.5
8.6
20
32
NC1AA
NOMESCO Finland
Elbow X-ray examination without contrast
10.3
8.4
16
18
R04.0
ICD-10 Finland
Epistaxis
7.6
8.2
19
30
Y83
ICD-10 Finland
Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
7.6
7.9
18
28
T81.0
ICD-10 Finland
Haemorrhage and haematoma complicating a procedure, not elsewhere classified
7.6
7.9
18
28
NG1AA
NOMESCO Finland
Knee X-ray examination without contrast
4.8
7.8
20
50
M25.0
ICD-10 Finland
Haemarthrosis
27.5
7.7
10
*
NK1XE
NOMESCO Finland
Other ultrasound examinnation of muscle or tendon
27.5
7.7
10
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.3
7.7
23
65
3047, ,
Kela drug reimbursment
+∞
7.4
7
*
1520, ,
Kela drug reimbursment
+∞
7.4
7
*
2BD02, ,
NOMESCO Finland
+∞
7.4
7
*
D68.9
ICD-10 Finland
Coagulation defect, unspecified
+∞
7.4
7
*
TPX10
NOMESCO Finland
Implantation of vascular injection port
11.3
7.3
13
13
R4110
NOMESCO Finland
Physiotherapy
3.2
7.1
39
165
S82.3
ICD-10 Finland
Fracture of lower end of tibia
24.5
6.8
9
*
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
74.4
6.5
7
*
2BD06, ,
NOMESCO Finland
+∞
6.3
6
*
D67
ICD-10 Finland
Hereditary factor IX deficiency
+∞
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
38
23
26.04
47.83
9.8
8.3
3.05
3.35
g/l
0.50
38
23
55
97
11.38
34.39
9.6
4.5
36.63
30.08
s
4.00
55
97
47
145
5.23
15.00
8.0
2.5
0.78
0.84
mg/l
0.14
36
117
14
0
+∞
14.96
2.5
0.0
—
—
—
0
0
11
0
+∞
11.68
1.9
0.0
—
—
—
0
0
16
8
23.45
11.56
2.3
3.0
112.56
102.38
%
—
16
8
59
285
3.61
9.14
9.7
5.2
38.09
36.76
g/l
1.08
54
275
39
146
3.74
8.92
5.3
2.1
2.91
2.82
mg/l
0.08
34
133
61
322
3.29
7.80
7.9
8.1
1.22
1.21
mmol/l
0.07
46
279
14
16
9.97
7.33
1.2
1.2
4.37
4.67
u/ml
—
8
9
12
11
12.20
7.01
2.6
1.9
—
—
—
0
0
13
15
9.77
6.79
1.2
1.2
1.83
1.13
u/ml
—
6
8
72
453
3.11
6.22
9.9
11.1
3.91
3.97
e9/l
0.11
65
396
17
49
3.98
5.45
2.1
3.2
1.23
1.23
mmol/l
0.01
17
43
10
15
7.27
4.59
1.2
1.0
—
—
—
0
0
59
371
2.44
4.52
9.5
6.8
10.07
11.45
umol/l
0.84
59
358
48
285
2.32
4.08
12.7
9.3
1.15
1.18
inr
0.09
13
87
11
25
4.81
3.75
1.8
1.4
0.20
0.21
g/l
0.13
11
25
31
159
2.38
3.62
5.7
2.3
—
—
—
0
0
8
13
6.58
3.58
2.5
3.8
58.38
56.77
%
—
8
13
11
28
4.28
3.41
1.8
1.4
1.02
1.12
g/l
0.66
11
28
52
348
2.03
3.01
5.0
2.6
—
—
—
0
0
7
13
5.70
2.92
1.4
2.4
—
—
—
0
0
38
252
1.82
2.10
6.5
3.0
—
—
—
0
0
8
26
3.25
2.06
1.1
1.3
—
—
—
0
0
16
79
2.22
1.98
4.7
7.5
105.06
103.20
mmol/l
1.44
16
79
91
810
2.37
1.87
18.7
11.4
21.56
21.48
mg/l
0.01
74
617
7
23
3.19
1.83
1.4
2.0
—
—
—
0
0
84
733
1.91
1.57
17.8
9.8
94.41
89.58
ml/min/173m2
1.14
73
591
90
805
2.18
1.55
20.1
12.8
139.93
139.72
mmol/l
0.57
90
783
5
15
3.45
1.54
1.6
2.3
0.16
0.14
e9/l
—
5
10
90
808
2.14
1.48
20.4
12.8
3.95
3.97
mmol/l
0.44
90
785
5
16
3.23
1.45
1.6
2.2
340.00
615.50
e6/l
—
5
10
6
23
2.71
1.39
1.0
2.4
68.33
260.89
ug/l
—
6
23
19
119
1.74
1.23
1.4
1.2
37.86
2.48
u/ml
—
9
44
5
21
2.45
1.10
1.8
1.7
—
—
—
0
0
30
222
1.50
1.00
2.6
2.9
49.43
76.15
u/l
0.74
30
213
6
31
1.99
0.86
1.5
1.4
—
—
—
0
0
26
195
1.45
0.80
1.3
1.4
0.69
0.84
u/ml
—
7
67
13
84
1.63
0.76
14.0
8.5
1.11
1.10
mmol/l
0.12
13
78
5
24
2.14
0.75
3.4
18.1
23.80
24.29
mmol/l
—
5
24
5
29
1.76
0.64
1.4
1.3
—
—
—
0
0
30
243
1.34
0.59
2.2
1.8
98.43
94.28
pmol/l
0.21
19
124
25
197
1.36
0.59
1.6
1.6
—
—
—
0
0
12
82
1.53
0.57
3.2
2.1
322.92
364.93
nmol/l
0.33
12
75
9
60
1.55
0.56
3.3
2.5
—
—
—
0
0
9
64
1.45
0.53
4.9
7.2
—
—
—
0
0
9
65
1.42
0.52
2.6
2.3
32.11
27.40
u/l
—
9
53
24
193
1.32
0.49
3.5
3.3
0.00
0.01
estimate
0.49
15
72
17
130
1.37
0.48
1.2
1.2
21.82
14.54
iu/ml
—
6
36
6
93
0.62
0.45
1.3
1.6
—
—
—
0
0
70
739
0.82
0.33
3.9
3.7
6.38
5.88
mmol/l
1.08
65
688
5
38
1.33
0.23
2.4
1.6
26.80
33.63
nmol/l
—
5
38
0
10
0.00
0.21
0.0
3.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
7.60
—
0
10
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
6
50
1.21
0.20
1.5
1.5
33.95
16.55
iu/l
—
6
39
26
288
0.87
0.20
3.3
3.0
—
—
—
0
0
22
197
1.15
0.17
3.7
4.0
20.91
8.13
mg/mmol
0.50
17
124
27
246
1.13
0.17
3.4
3.1
18.79
35.33
ng/l
0.57
16
144
17
192
0.86
0.16
3.2
3.7
23.77
21.59
%
—
10
70
16
140
1.17
0.16
1.3
2.0
—
—
—
0
0
17
150
1.16
0.15
1.4
2.2
—
—
—
0
0
10
118
0.83
0.15
1.2
1.4
—
—
—
0
0
39
366
1.11
0.15
2.9
3.0
0.00
0.00
estimate
-0.00
15
76
5
43
1.17
0.10
9.2
9.0
22.14
24.45
mmol/l
—
5
43
5
45
1.12
0.10
2.6
1.5
—
—
—
0
0
39
372
1.08
0.09
2.9
3.0
0.00
0.00
estimate
-0.00
15
71
7
63
1.12
0.08
3.1
18.1
4.97
5.06
kpa
—
7
58
10
109
0.91
0.04
2.3
1.4
—
—
—
0
0
64
644
0.98
0.00
3.8
3.4
—
—
—
0
0
37
366
1.02
0.00
3.8
4.1
0.00
0.00
estimate
-0.00
14
75
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
59
0.84
-0.00
1.2
1.9
—
—
—
0
0
7
77
0.90
-0.00
2.7
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.3
—
43.33
—
0
6
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
7
74
0.94
-0.00
2.4
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
7
77
0.90
-0.00
1.4
1.9
—
—
—
0
0
0
5
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
1.2
—
—
—
0
0
7
72
0.97
-0.00
6.3
3.8
31.14
30.20
%
—
7
50
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
0.80
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_HEREDFVIIIDEF and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have D3_HEREDFVIIIDEF.| 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_HEREDFVIIIDEF – Hereditary factor VIII deficiency
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
Loading data