Hereditary lymphedema

Q17_HEREDITARY_LYMPHEDEMA

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q82.0
  • Cause of death: ICD-10 Q82.0

2 out of 7 registries used, show all original rules.

57

4. Check minimum number of events

None

57

5. Include endpoints

None

57

6. Filter based on genotype QC (FinnGen only)

55

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 55 40 15
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 46.57 45.23 50.13

-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
57
Matched controls
570
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q82.0
ICD-10 Finland
Hereditary lymphoedema
+∞
81.7
57
*
I89.0
ICD-10 Finland
Lymphoedema, not elsewhere classified
300.1
21.0
20
*
Z31.5
ICD-10 Finland
Genetic counselling
21.2
13.6
20
14
C03CA01
ATC
furosemide; systemic
5.7
9.7
29
88
PG1DE
NOMESCO Finland
Other extensive ultrasound examination of artery
16.4
8.9
14
11
C03EB01
ATC
furosemide and potassium-sparing agents; systemic
19.0
7.6
11
7
QD9S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in lower extremities, unspecified
+∞
7.4
7
*
A46
ICD-10 Finland
Erysipelas
5.3
7.4
19
49
R4120
NOMESCO Finland
Occupational therapy
9.9
7.1
14
18
R60.0
ICD-10 Finland
Localized oedema
7.5
6.8
16
28
Q82.2
ICD-10 Finland
Mastocytosis
+∞
6.4
6
*
QDJ00
NOMESCO Finland
Liposuction in lower extremity
+∞
6.4
6
*
PJW20
NOMESCO Finland
Lymphovenous shunt
+∞
6.4
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
11
27
4.79
3.63
3.8
6.1
—
—
—
0
0
21
99
2.78
3.15
10.8
4.7
—
—
—
0
0
5
6
8.97
2.80
1.4
1.3
—
—
—
0
0
21
106
2.55
2.71
6.7
4.0
7.41
7.41
ph
—
5
26
14
57
2.93
2.70
1.4
1.4
—
—
—
0
0
13
51
3.01
2.66
1.2
1.3
—
—
—
0
0
21
107
2.52
2.65
2.0
2.0
1.74
0.69
mg/l
0.67
16
87
6
13
5.02
2.33
5.3
3.4
—
—
—
0
0
5
9
5.96
2.26
2.6
1.3
5.04
10.34
mg/l
—
5
9
13
58
2.61
2.09
1.4
1.3
—
—
—
0
0
11
45
2.79
2.07
3.5
1.4
—
—
—
0
0
9
33
3.04
2.04
4.7
3.5
0.31
1.72
mmol/l
—
9
25
13
62
2.42
1.82
1.3
2.5
11.74
13.85
umol/l
0.52
13
57
5
14
3.81
1.65
3.0
1.2
1.23
1.17
g/l
—
5
14
5
14
3.81
1.65
3.0
1.2
0.27
0.24
g/l
—
5
14
12
58
2.35
1.63
1.6
2.5
2.49
2.38
g/l
0.22
12
51
7
27
2.81
1.57
4.6
4.4
1.13
1.30
mmol/l
—
7
27
5
16
3.32
1.47
3.2
7.3
95.68
95.09
%
—
5
16
19
116
1.96
1.45
5.3
2.6
—
—
—
0
0
19
117
1.94
1.41
5.6
2.9
0.30
0.37
e6/l
0.15
13
83
6
23
2.79
1.40
2.3
3.7
—
—
—
0
0
23
152
1.86
1.38
5.4
3.5
61.99
44.69
e6/l
0.13
15
100
26
182
1.79
1.29
10.1
6.3
1.20
1.21
mmol/l
0.09
20
149
29
210
1.78
1.28
9.5
5.6
—
—
—
0
0
5
19
2.78
1.24
3.8
2.7
24.46
24.34
mmol/l
—
5
19
13
75
1.95
1.14
2.6
3.2
16.40
64.54
ng/l
—
5
50
11
60
2.03
1.12
2.8
1.6
—
—
—
0
0
5
22
2.39
1.05
1.2
1.3
—
—
—
0
0
5
22
2.39
1.05
1.0
1.0
—
—
—
0
0
7
35
2.14
1.04
1.7
1.5
—
—
—
0
0
9
51
1.91
1.00
3.2
5.8
1.06
1.01
mmol/l
—
9
46
48
423
1.85
0.96
30.5
14.4
14.26
14.53
%
0.17
48
413
19
131
1.68
0.95
5.7
2.9
25.12
15.84
e6/l
0.47
13
94
8
43
2.00
0.92
4.9
5.0
108.13
103.74
mmol/l
—
8
43
20
141
1.64
0.91
3.0
2.2
—
—
—
0
0
27
208
1.57
0.85
19.3
8.8
0.00
0.00
e9/l
0.50
20
168
15
103
1.62
0.74
2.8
3.3
—
—
—
0
0
25
199
1.46
0.64
22.7
13.7
1.32
1.13
inr
—
9
67
11
73
1.63
0.61
5.4
2.9
0.86
0.83
mmol/l
0.16
11
64
0
19
0.00
0.61
0.0
1.3
—
—
—
0
0
0
19
0.00
0.61
0.0
1.3
—
232.83
—
0
10
35
299
1.44
0.60
7.6
3.8
—
38.33
—
0
6
7
105
0.62
0.55
3.3
4.6
3.21
1.46
ug/l
—
7
92
21
166
1.42
0.54
2.2
1.9
94.55
97.10
pmol/l
0.08
11
80
17
130
1.44
0.52
6.3
2.4
—
—
—
0
0
37
327
1.37
0.47
4.5
3.2
—
—
—
0
0
28
238
1.35
0.45
4.0
3.4
0.00
0.00
estimate
—
7
48
28
238
1.35
0.45
5.4
4.6
0.00
0.00
estimate
—
5
47
8
55
1.53
0.45
1.4
1.3
—
—
—
0
0
8
57
1.47
0.44
2.3
1.2
—
—
—
0
0
5
31
1.67
0.44
1.2
2.1
—
—
—
0
0
5
32
1.62
0.43
1.2
1.2
—
—
—
0
0
5
32
1.62
0.43
4.6
3.3
4.08
4.52
pmol/l
—
5
24
28
241
1.32
0.41
4.0
3.4
0.00
0.00
estimate
—
6
44
10
133
0.70
0.39
7.3
3.6
—
—
—
0
0
9
70
1.34
0.39
1.4
1.5
—
—
—
0
0
15
119
1.35
0.36
15.2
6.4
—
—
—
0
0
22
188
1.28
0.32
3.0
2.8
—
—
—
0
0
12
96
1.32
0.27
1.8
1.7
—
—
—
0
0
14
115
1.29
0.27
1.6
1.2
2.16
0.72
u/ml
—
5
26
5
38
1.35
0.24
1.8
2.2
15.28
3.51
ug/l
—
5
33
5
42
1.21
0.22
6.8
3.6
—
—
—
0
0
0
11
0.00
0.21
0.0
3.3
—
77.95
—
0
11
0
10
0.00
0.21
0.0
2.9
—
3.87
—
0
10
0
10
0.00
0.21
0.0
1.8
—
—
—
0
0
6
47
1.31
0.21
1.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
15
130
1.21
0.18
1.1
1.6
—
—
—
0
0
18
197
0.87
0.12
3.1
1.9
—
—
—
0
0
16
144
1.15
0.12
4.2
3.0
—
—
—
0
0
13
115
1.17
0.12
1.8
1.8
—
—
—
0
0
5
60
0.82
0.09
1.4
1.8
—
—
—
0
0
50
487
1.22
0.07
27.5
13.3
3.93
3.95
mmol/l
0.10
50
471
11
104
1.07
0.01
1.8
1.5
18.10
20.31
nmol/l
0.29
11
86
33
329
1.01
0.00
6.5
3.9
—
—
—
0
0
11
114
0.96
0.00
3.4
2.9
88.62
86.81
mg/l
—
6
71
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
6
67
0.88
0.00
1.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
42.36
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
303.80
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
7
69
1.02
-0.00
1.1
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
52
513
1.16
-0.00
19.1
12.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
49
487
1.04
-0.00
27.8
13.1
139.18
139.82
mmol/l
1.61
49
472
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
13
130
1.00
-0.00
5.3
3.6
0.20
0.00
estimate
—
5
44
0
5
0.00
-0.00
0.0
1.4
—
1.68
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: Q17_HEREDITARY_LYMPHEDEMA – Hereditary lymphedema

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).