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Lipomatosis, not elsewhere classified

DOID EFO Endpoint Browser PheWeb

E4_LIPOMATOSIS

lipomatosis: an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders.

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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 — E88.2#
  • Cause of death: ICD-10 — E88.2#

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

104

4. Check minimum number of events

None

104

5. Include endpoints

None

104

6. Filter based on genotype QC (FinnGen only)

102

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E88
Name in latin
Lipomatosis non alibi classificata

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 515 278 233
Only index persons 487 269 218
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 53.98 54.63 53.59
Only index persons 54.26 54.83 53.56

-FinnGen-

Key figures

All Female Male
Number of individuals 102 61 41
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 56.36 57.23 55.08

-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
104
Matched controls
1040
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E88.2
ICD-10 Finland
Lipomatosis, not elsewhere classified
+∞
147.9
104
*
D17.1
ICD-10 Finland
Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk
19.0
12.7
19
12
M48.0
ICD-10 Finland
Spinal stenosis
5.4
12.0
29
70
N03AX12
ATC
[U] gabapentin; oral
4.5
10.5
32
93
QBE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin of trunk
9.0
10.4
22
30
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
4.2
10.4
37
121
N03AX16
ATC
[U] pregabalin
3.9
9.9
41
149
R5140
NOMESCO Finland
Monitoring the use of the aid
4.9
9.7
25
63
N02AX02
ATC
tramadol; systemic, rectal
3.7
9.7
64
315
E66.01
ICD-10 Finland
Obesity due to excess calories
5.5
9.3
20
43
E66.8
ICD-10 Finland
Other obesity
11.6
8.9
16
16
D17.2
ICD-10 Finland
Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs
19.1
8.3
12
7
215
Kela drug reimbursment
Diabetes, non-insulin-treated
3.6
8.2
36
134
L03
ICPC
Low back symptom/complaint
3.3
8.0
43
181
M54.5
ICD-10 Finland
Low back pain
3.2
7.8
52
248
A10BJ06
ATC
semaglutide; parenteral
9.5
7.6
15
18
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.1
7.5
24
71
103
Kela drug reimbursment
Diabetes, insulin-treated
3.3
7.4
36
142
D17.7
ICD-10 Finland
Benign lipomatous neoplasm of other sites
+∞
7.4
7
*
D17.9
ICD-10 Finland
Benign lipomatous neoplasm, unspecified
32.5
7.3
9
*
A10BA02
ATC
metformin; oral
3.2
7.3
39
163
H02AB06
ATC
prednisolone; systemic
3.0
7.0
63
351
T90
ICPC
Diabetes non-insulin dependent
3.3
7.0
35
140
C03CA01
ATC
furosemide; systemic
3.2
6.9
38
160
R06.0
ICD-10 Finland
Dyspnoea
3.1
6.9
38
161
A10AE04
ATC
insulin glargine; parenteral
7.1
6.8
16
26
A01
ICPC
Pain general/multiple sites
4.5
6.8
18
46
G47.3
ICD-10 Finland
Sleep apnoea
3.2
6.7
36
149
D01
ICPC
Abdominal pain/cramps general
4.3
6.7
19
51
346
Kela drug reimbursment
Dulaglutide, exenatide, liraglutide, lixisenatide and semaglutide (adults)
7.4
6.6
15
23
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.9
6.3
45
218
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
4.0
6.2
20
59
JN3BD
NOMESCO Finland
Extensive abdominal CT
4.1
6.2
19
54
M51.3
ICD-10 Finland
Other specified intervertebral disc degeneration
4.3
6.1
17
45
M79.6
ICD-10 Finland
Pain in limb
2.8
6.0
57
318

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
46
224
2.89
6.41
3.9
3.0
88.22
324.01
mg/l
0.36
33
138
70
440
2.81
5.77
7.8
5.2
0.21
0.19
e9/l
0.67
57
397
46
235
2.72
5.73
3.9
2.8
7.85
7.69
mmol/l
0.07
40
198
58
335
2.65
5.62
20.9
11.2
1.07
1.21
inr
0.95
18
108
46
237
2.69
5.61
4.5
3.4
14.55
5.26
mg/mmol
0.37
35
143
68
429
2.69
5.44
7.4
5.1
0.61
0.54
e9/l
1.56
53
376
68
430
2.68
5.40
7.4
5.1
0.05
0.04
e9/l
1.26
53
377
68
440
2.58
4.99
7.4
5.2
1.84
1.80
e9/l
0.18
54
401
37
183
2.59
4.78
1.9
1.6
0.98
0.88
mg/l
0.15
31
138
63
403
2.43
4.60
8.5
6.0
—
—
—
0
0
79
571
2.60
4.25
6.7
3.6
—
—
—
0
0
71
493
2.39
4.12
10.8
9.6
4.60
3.81
e9/l
2.21
59
434
15
48
3.48
4.12
4.9
2.2
5.20
5.31
kpa
0.17
15
48
40
221
2.32
3.96
5.0
2.4
—
—
—
0
0
57
367
2.22
3.88
10.0
5.1
1.22
1.22
mmol/l
0.07
51
305
36
192
2.34
3.85
6.2
3.8
—
—
—
0
0
22
96
2.64
3.57
2.3
1.4
—
—
—
0
0
84
648
2.54
3.55
5.5
3.7
14.33
14.76
pmol/l
0.81
76
586
64
445
2.14
3.44
8.0
5.7
8.96
10.86
umol/l
2.27
64
419
55
362
2.10
3.41
1.9
2.0
—
—
—
0
0
8
15
5.68
3.26
1.1
5.1
—
—
—
0
0
12
35
3.74
3.23
5.4
2.1
—
—
—
0
0
8
16
5.32
3.12
4.4
2.2
24.25
27.00
mmol/l
—
8
16
47
301
2.02
3.05
2.2
1.8
106.04
99.99
pmol/l
0.25
26
149
35
202
2.10
3.00
8.2
6.0
—
—
—
0
0
38
230
2.03
2.85
3.9
3.3
7.41
7.40
ph
—
9
54
13
49
2.89
2.74
17.5
5.4
—
—
—
0
0
13
49
2.89
2.74
1.4
1.5
—
—
—
0
0
6
10
6.29
2.73
5.0
2.7
—
—
—
0
0
30
170
2.07
2.66
1.1
1.3
16.88
42.18
iu/ml
—
6
51
26
140
2.14
2.63
5.7
2.5
545.67
553.85
mosm/kgh2o
0.07
21
113
11
37
3.20
2.58
9.5
5.1
24.59
25.24
mmol/l
0.26
11
37
7
16
4.61
2.52
4.4
2.4
8.11
7.82
kpa
—
7
16
22
113
2.20
2.49
1.2
1.3
—
—
—
0
0
97
856
2.98
2.47
5.9
4.3
6.22
5.83
mmol/l
1.78
92
795
37
232
1.92
2.46
2.9
1.9
—
—
—
0
0
12
46
2.82
2.45
1.1
1.1
—
—
—
0
0
13
53
2.66
2.38
8.3
3.2
—
—
—
0
0
34
212
1.90
2.28
7.2
2.6
0.32
0.43
e6/l
0.29
28
152
56
411
1.79
2.20
5.5
3.2
0.00
0.00
estimate
-0.00
13
91
56
414
1.76
2.12
5.6
3.2
0.00
0.00
estimate
-0.00
13
82
5
10
5.19
2.09
12.0
3.6
—
—
—
0
0
25
145
1.95
2.05
1.8
1.6
1136.26
1226.31
nmol/l
0.20
18
109
80
661
1.91
2.05
9.8
6.6
77.74
75.16
u/l
0.40
80
612
55
408
1.74
2.03
8.1
4.2
0.00
0.00
estimate
-0.00
13
83
27
163
1.89
1.97
1.9
1.8
409.15
457.45
pmol/l
0.46
20
142
75
612
1.81
1.94
4.5
3.6
—
—
—
0
0
20
109
2.03
1.94
7.0
2.4
4.25
2.88
e6/l
0.16
12
59
16
80
2.18
1.92
14.2
5.5
103.37
104.04
mmol/l
0.20
16
80
52
385
1.70
1.90
12.8
8.9
0.00
0.01
e9/l
0.45
41
308
33
215
1.78
1.89
6.5
2.5
—
—
—
0
0
21
118
1.98
1.88
1.1
1.3
—
—
—
0
0
43
305
1.70
1.82
3.7
3.1
88.79
29.34
ng/l
0.42
33
192
26
159
1.85
1.82
1.6
1.3
1.94
2.38
g/l
1.11
14
93
16
82
2.12
1.81
1.9
1.6
—
—
—
0
0
15
75
2.17
1.80
9.7
6.2
2.30
1.57
mmol/l
—
10
67
6
18
3.47
1.77
1.0
2.6
154.67
243.44
pmol/l
—
6
18
17
91
2.04
1.73
1.9
1.7
—
—
—
0
0
10
44
2.41
1.61
1.2
1.6
—
—
—
0
0
7
27
2.70
1.54
1.4
1.9
30.14
41.70
nmol/l
—
7
27
7
27
2.70
1.54
1.9
1.5
—
—
—
0
0
7
27
2.70
1.54
1.4
1.4
0.25
0.20
g/l
—
7
27
34
236
1.65
1.52
1.6
1.6
2.08
1.27
mmol/l
1.62
28
192
27
177
1.71
1.49
5.9
3.1
—
—
—
0
0
7
28
2.61
1.48
1.4
1.4
1.27
1.07
g/l
—
7
28
14
74
2.03
1.47
7.4
3.1
—
—
—
0
0
16
89
1.94
1.47
1.9
1.4
—
—
—
0
0
14
75
2.00
1.42
1.9
1.4
—
—
—
0
0
5
17
3.03
1.37
2.8
1.4
7.92
8.95
kpa
—
5
17
5
17
3.03
1.37
2.8
1.4
4.88
4.83
kpa
—
5
17
38
278
1.58
1.36
8.6
3.4
56.86
52.63
e6/l
0.04
29
195
33
234
1.60
1.34
7.6
2.8
13.67
329.45
e6/l
0.58
27
176
5
19
2.71
1.23
1.8
4.1
56.40
61.84
%
—
5
19
5
19
2.71
1.23
1.8
3.2
4.38
5.41
e9/l
—
5
19
11
57
2.04
1.22
1.4
3.1
62.53
64.31
e9/l
—
6
45
34
249
1.54
1.19
5.0
3.0
—
—
—
0
0
19
121
1.70
1.15
3.1
1.7
—
—
—
0
0
16
100
1.71
1.04
2.6
1.7
29.39
29.62
s
0.09
16
95
32
238
1.50
1.04
4.5
2.9
—
—
—
0
0
23
160
1.56
1.00
1.1
1.3
0.74
9.12
u/ml
—
5
62
97
914
1.91
0.96
19.6
10.8
—
—
—
0
0
93
861
1.76
0.96
24.0
11.4
22.34
21.15
mg/l
0.16
86
658
19
128
1.59
0.94
2.2
1.8
—
—
—
0
0
6
29
2.13
0.91
8.5
2.4
—
—
—
0
0
8
43
1.93
0.90
1.4
1.2
—
—
—
0
0
6
33
1.87
0.80
18.5
6.5
—
—
—
0
0
0
26
0.00
0.79
0.0
5.2
—
1.16
—
0
26
5
25
2.05
0.73
2.6
2.7
—
—
—
0
0
12
77
1.63
0.72
5.2
3.7
—
—
—
0
0
11
70
1.64
0.68
2.0
1.3
—
—
—
0
0
5
28
1.82
0.67
1.6
2.8
8.58
10.08
mg/l
—
5
28
5
30
1.70
0.62
1.8
1.7
26.22
24.97
mmol/l
—
5
30
0
23
0.00
0.59
0.0
2.8
—
3.99
—
0
23
29
234
1.33
0.58
5.3
3.5
0.00
0.00
estimate
-0.00
12
83
6
38
1.61
0.55
10.5
2.1
119.50
131.18
g/l
—
6
38
6
100
0.58
0.55
2.0
1.5
—
—
—
0
0
12
83
1.50
0.54
1.7
1.5
—
—
—
0
0
8
55
1.49
0.44
1.5
1.3
—
—
—
0
0
13
96
1.40
0.44
1.4
1.2
—
—
—
0
0
5
33
1.54
0.42
12.2
1.7
0.38
0.69
%
—
5
33
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
8
61
1.34
0.40
1.3
1.1
—
—
—
0
0
5
35
1.45
0.40
12.2
1.7
1.06
1.77
%
—
5
35
10
72
1.43
0.38
4.3
4.1
1.23
1.22
mmol/l
—
10
64
6
43
1.42
0.35
1.0
1.2
—
—
—
0
0
10
75
1.37
0.31
1.2
1.3
—
—
—
0
0
8
62
1.31
0.29
4.0
3.1
—
—
—
0
0
25
217
1.20
0.28
1.4
1.4
—
—
—
0
0
5
37
1.37
0.24
23.6
5.4
93.20
93.18
%
—
5
37
5
38
1.33
0.23
23.6
5.2
0.54
0.71
%
—
5
38
5
39
1.30
0.23
23.6
5.2
1.42
1.79
%
—
5
39
5
41
1.23
0.22
3.0
2.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
6
47
1.29
0.21
1.8
3.8
—
—
—
0
0
0
13
0.00
0.21
0.0
3.1
—
2.96
—
0
13
7
61
1.16
0.18
4.6
2.1
—
—
—
0
0
35
335
1.07
0.07
3.1
2.6
—
—
—
0
0
76
749
1.05
0.04
30.7
13.6
15.27
15.01
%
0.14
76
741
0
7
0.00
-0.00
0.0
1.0
—
107.00
—
0
7
0
6
0.00
-0.00
0.0
1.8
—
1.48
—
0
6
0
5
0.00
-0.00
0.0
14.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
40.96
—
0
7
0
6
0.00
-0.00
0.0
2.7
—
32.50
—
0
6
0
7
0.00
-0.00
0.0
1.4
—
571.29
—
0
7
0
6
0.00
-0.00
0.0
1.8
—
0.85
—
0
6
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
14.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
4.03
—
0
7
0
5
0.00
-0.00
0.0
1.8
—
1.76
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
26.10
—
0
6
7
73
0.96
-0.00
1.4
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
5.3
—
0.56
—
0
8

Mortality – FinRegistry

↥

Association

Association between endpoint E4_LIPOMATOSIS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_LIPOMATOSIS.

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: E4_LIPOMATOSIS – Lipomatosis, not elsewhere classified

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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