No definition available.
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. |
194 |
4. Check minimum number of eventsNone |
194 |
5. Include endpointsNone |
194 |
6. Filter based on genotype QC (FinnGen only) |
188 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Mastocytosis
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations of skin
- Other congenital malformations of skin
- Other congenital malformations
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 188 | 113 | 75 |
| Unadjusted period prevalence (%) | 0.04 | 0.04 | 0.03 |
| Median age at first event (years) | 48.47 | 47.79 | 49.49 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-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
- 194
- Matched controls
- 1940
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q82.2
ICD-10 Finland
Mastocytosis
+∞
280.8
194
*
C01CA24
ATC
epinephrine; parenteral
15.7
71.1
75
75
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
14.6
66.6
73
77
XW000
NOMESCO Finland
Bone marrow biopsy
22.2
56.7
45
26
D47.0
ICD-10 Finland
Histiocytic and mast cell tumours of uncertain and unknown behaviour
463.9
39.6
38
*
TNE25
NOMESCO Finland
Drill biopsy of bone marrow, pelvis
125.2
38.4
40
*
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
10.0
36.2
47
60
9741/3-C42.1
ICD-O-3
Malignant mastocytosis of bone marrow
+∞
30.0
28
*
R06AE09
ATC
levocetirizine; oral
5.3
23.4
59
147
A02BA02
ATC
ranitidine; systemic
4.8
22.6
67
191
C96.2
ICD-10 Finland
Malignant mast cell tumour
+∞
20.1
19
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.9
19.3
94
379
XQ800
NOMESCO Finland
Prick test
5.6
17.2
37
79
R06AX27
ATC
desloratadine; oral
3.6
17.1
96
417
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
5.1
15.0
35
80
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.0
13.5
46
141
E0000UV, ,
ATC
2.8
11.2
106
584
ZXD31
NOMESCO Finland
Major difficulties in performing procedure
7.9
9.8
22
31
7573E
ICD-9 Finland
Congenital anomalies of the integument, Other specified anomalies of skin[URTICARIA PIGMENTOSA (MASTOCYTOSIS)]
+∞
9.4
9
*
L30.9
ICD-10 Finland
Dermatitis, unspecified
2.9
8.8
50
207
WXQ27
NOMESCO Finland
UVB narrow spectrum light therapy
23.2
8.1
11
5
T78.2
ICD-10 Finland
Anaphylactic shock, unspecified
12.6
7.7
13
11
R06AE07
ATC
cetirizine; oral
2.3
7.5
99
605
Z2221
NOMESCO Finland
Medical doctor
2.3
6.7
65
345
D07AC01
ATC
betamethasone; topical
2.2
6.5
74
420
Q82.0
ICD-10 Finland
Hereditary lymphoedema
+∞
6.3
6
*
C421, 9741, 1
ICD-O-3
+∞
6.3
6
*
E000001, ,
ATC
2.5
6.2
47
222
M05BA04
ATC
alendronic acid; oral
4.1
6.1
17
44
R03DC03
ATC
montelukast; oral
2.5
6.1
44
204
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
156
951
4.27
15.87
10.9
10.0
3.65
3.99
e9/l
1.39
149
832
124
720
3.00
12.23
8.0
8.4
1.22
1.22
mmol/l
0.26
110
624
116
660
2.88
11.71
6.7
8.0
1.22
1.22
mmol/l
0.00
110
607
14
8
18.72
9.55
2.4
3.5
55.71
105.57
ug/l
—
14
8
21
45
5.11
9.55
3.2
1.8
—
—
—
0
0
8
0
+∞
8.39
1.0
0.0
—
—
—
0
0
20
48
4.53
7.95
1.9
5.2
2.98
3.51
g/l
1.04
20
48
104
639
2.35
7.88
6.1
5.4
38.03
36.19
g/l
3.48
98
609
11
15
7.70
5.22
1.6
2.5
33.82
32.40
pg
0.40
11
15
73
506
1.71
3.11
2.7
3.5
2.37
2.36
mmol/l
0.35
67
449
14
52
2.82
2.96
1.4
2.7
1.09
1.48
g/l
1.04
14
46
6
9
6.83
2.89
1.5
1.8
1.80
3.07
mg/l
—
6
9
6
10
6.15
2.72
1.0
7.2
79.33
96.40
%
—
6
10
8
20
4.12
2.59
1.8
1.1
—
—
—
0
0
6
11
5.59
2.56
1.8
1.5
0.75
0.87
g/l
—
6
11
11
38
3.01
2.46
1.3
1.9
—
—
—
0
0
72
534
1.55
2.21
4.6
3.2
—
—
—
0
0
14
61
2.40
2.20
4.8
2.1
107.30
4623.63
u/l
—
8
20
7
19
3.78
2.17
1.4
1.2
—
—
—
0
0
41
266
1.69
2.16
3.1
3.5
390.55
179.50
ng/l
0.23
30
192
5
10
5.10
2.08
1.2
1.5
1.32
1.55
g/l
—
5
10
95
1142
0.67
2.01
3.1
3.3
45.38
44.20
u/l
0.07
90
1090
164
1484
1.68
1.85
15.5
11.1
88.39
87.07
ml/min/173m2
0.36
144
1194
177
1637
1.93
1.84
17.9
12.6
15.29
21.29
mg/l
2.68
140
1248
49
346
1.56
1.83
3.1
2.2
3.14
3.25
mg/l
0.12
41
294
8
29
2.83
1.81
7.0
3.8
51.88
56.62
%
—
8
29
8
30
2.74
1.74
1.7
1.4
—
—
—
0
0
8
30
2.74
1.74
1.8
1.4
—
—
—
0
0
57
423
1.49
1.69
3.6
3.0
0.19
0.32
e6/l
0.79
43
319
23
136
1.78
1.68
2.5
3.1
0.21
0.23
g/l
0.40
23
130
58
443
1.44
1.47
1.8
2.2
433.26
340.31
u/l
0.12
53
419
23
142
1.70
1.46
2.5
6.7
0.49
2.04
mmol/l
0.95
18
110
18
104
1.81
1.42
7.4
11.7
24.21
24.65
mmol/l
0.30
18
104
10
46
2.24
1.42
2.1
1.8
—
—
—
0
0
34
235
1.54
1.40
3.2
3.1
7.21
2.71
e6/l
0.33
20
128
6
23
2.66
1.38
1.2
1.5
—
—
—
0
0
48
359
1.45
1.35
2.7
3.2
1220.11
923.82
ng/l
0.20
42
297
54
424
1.38
1.16
1.3
1.3
0.75
1.88
u/ml
1.75
13
117
7
31
2.30
1.11
4.1
1.6
—
—
—
0
0
24
162
1.55
1.11
1.4
1.8
—
—
—
0
0
8
41
1.99
1.10
4.5
1.8
—
—
—
0
0
64
528
1.32
0.99
2.0
1.9
93.11
98.25
pmol/l
0.45
35
259
31
227
1.44
0.98
2.4
1.8
—
—
—
0
0
10
171
0.56
0.97
15.2
6.3
—
—
—
0
0
46
366
1.34
0.90
2.0
2.0
1.09
1.78
mg/l
0.48
32
290
158
1480
1.36
0.90
4.1
3.8
1.33
1.30
mmol/l
0.16
150
1373
8
43
1.90
0.88
3.9
1.7
—
—
—
0
0
6
32
1.90
0.82
4.8
2.0
—
—
—
0
0
6
32
1.90
0.82
4.8
2.0
—
—
—
0
0
33
253
1.37
0.82
3.2
2.7
0.72
0.91
e6/l
0.28
19
144
22
158
1.44
0.79
1.4
1.8
—
—
—
0
0
11
67
1.68
0.77
2.0
5.1
0.58
0.70
%
0.57
11
67
98
877
1.24
0.74
5.7
5.7
6.31
6.50
mmol/l
0.60
92
816
87
774
1.22
0.68
4.7
4.5
0.00
0.00
estimate
-0.00
17
147
18
128
1.45
0.68
2.2
3.2
—
—
—
0
0
88
784
1.22
0.68
3.4
3.3
0.00
0.00
estimate
-0.00
16
141
84
749
1.21
0.64
3.5
2.6
—
—
—
0
0
23
174
1.37
0.63
7.2
8.3
105.57
104.20
mmol/l
1.06
23
174
156
1481
1.27
0.63
5.7
4.6
1.98
1.91
mu/l
0.33
150
1364
20
148
1.39
0.62
8.3
12.4
5.03
5.06
kpa
0.05
20
142
20
148
1.39
0.62
8.3
12.4
11.94
12.34
kpa
0.22
20
142
18
131
1.41
0.62
1.9
2.0
—
—
—
0
0
0
20
0.00
0.60
0.0
1.2
—
—
—
0
0
11
72
1.56
0.60
1.2
1.6
—
—
—
0
0
8
53
1.53
0.59
2.0
1.4
—
—
—
0
0
133
1246
1.21
0.58
4.8
3.8
14.54
14.59
pmol/l
0.08
127
1134
30
242
1.28
0.55
1.6
1.7
1132.75
1228.36
nmol/l
0.25
25
183
44
374
1.23
0.53
4.1
2.2
—
—
—
0
0
85
776
1.17
0.47
3.4
3.3
0.00
0.01
estimate
0.50
18
157
7
50
1.41
0.45
1.1
1.2
—
—
—
0
0
159
1530
1.22
0.45
4.0
4.2
1.39
1.47
mmol/l
1.70
151
1422
0
15
0.00
0.41
0.0
3.4
—
—
—
0
0
71
645
1.16
0.41
20.4
10.5
1.17
1.16
inr
0.03
16
188
36
417
0.83
0.41
1.3
1.7
1.24
1.42
mmol/l
0.79
30
341
0
16
0.00
0.41
0.0
2.0
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
9
70
1.30
0.37
3.3
1.5
—
—
—
0
0
159
1541
1.18
0.34
4.3
4.3
4.64
4.74
mmol/l
0.56
152
1441
160
1559
1.15
0.27
4.5
4.6
2.83
2.83
mmol/l
0.01
154
1450
32
285
1.15
0.24
1.4
1.7
421.80
463.09
pmol/l
0.30
25
242
13
106
1.24
0.24
1.5
1.9
—
—
—
0
0
5
37
1.36
0.23
1.4
1.8
—
—
—
0
0
8
102
0.78
0.21
3.7
1.5
—
—
—
0
0
8
103
0.77
0.21
1.4
1.3
—
—
—
0
0
5
42
1.20
0.21
2.4
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.8
—
3.88
—
0
8
20
175
1.16
0.19
1.4
1.8
—
—
—
0
0
6
52
1.16
0.19
1.2
1.2
—
—
—
0
0
6
53
1.14
0.19
1.2
1.2
—
—
—
0
0
6
53
1.14
0.19
7.0
1.9
—
—
—
0
0
9
81
1.12
0.15
1.2
1.4
—
—
—
0
0
44
415
1.08
0.13
3.8
3.4
0.00
0.00
estimate
-0.00
16
148
153
1505
1.08
0.13
4.1
4.1
5.86
5.82
mmol/l
0.13
147
1393
117
1196
0.95
0.11
2.9
3.2
—
—
—
0
0
6
55
1.09
0.09
3.0
1.6
—
—
—
0
0
6
57
1.05
0.08
1.3
1.1
—
—
—
0
0
6
57
1.05
0.08
1.7
1.4
—
—
—
0
0
24
256
0.93
0.08
2.0
2.3
—
—
—
0
0
7
84
0.83
0.07
2.0
1.6
—
—
—
0
0
30
286
1.06
0.06
1.4
1.3
192.71
29.27
iu/ml
—
9
98
29
279
1.05
0.04
1.2
1.3
5.55
6.96
u/ml
0.10
13
108
63
618
1.03
0.03
3.6
3.2
—
—
—
0
0
23
240
0.95
0.03
1.7
2.1
—
—
—
0
0
28
287
0.97
0.01
1.9
1.5
—
—
—
0
0
41
403
1.02
0.01
3.5
3.6
7.72
56.43
mg/mmol
0.56
26
251
16
166
0.96
0.00
2.3
4.7
2.98
9.22
ug/l
1.29
11
132
37
374
0.99
0.00
1.4
1.5
—
—
—
0
0
32
319
1.00
0.00
3.2
4.3
25.27
21.08
%
0.55
11
148
54
542
0.99
0.00
2.9
3.2
26.40
33.53
ng/l
0.34
34
341
11
107
1.03
0.00
1.0
1.0
—
—
—
0
0
23
233
0.99
0.00
2.4
2.8
0.58
0.76
ug/l
0.86
11
142
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
6.78
—
0
5
0
6
0.00
-0.00
0.0
5.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.6
—
6.89
—
0
7
0
8
0.00
-0.00
0.0
1.4
—
223.07
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
26.26
—
0
5
5
51
0.98
-0.00
1.4
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
12.71
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
13.83
—
0
6
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_MASTOCYTOSIS – Mastocytosis
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).