Systemic disorders of connective tissue in diseases classified elsewhere

M13_SYSTCONINOTH

connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.

Suggest a new description

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 M36*
  • Cause of death: ICD-10 M36*

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

142

4. Check minimum number of events

None

142

5. Include endpoints

None

142

6. Filter based on genotype QC (FinnGen only)

142

Control definitions (FinnGen only)

Control exclude
M13_SYSTCONNECT

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2

Similar endpoints

List of similar endpoints to Systemic disorders of connective tissue in diseases classified elsewhere based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

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 1422 617 803
Only index persons 1167 513 654
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 25.39 30.73 21.29
Only index persons 30.58 35.25 26.92

-FinnGen-

Key figures

All Female Male
Number of individuals 142 71 71
Unadjusted period prevalence (%) 0.03 0.02 0.03
Median age at first event (years) 48.86 52.49 45.24

-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
128
Matched controls
1280
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
M36.4*D69.0
ICD-10 Finland
Arthropathy in Henoch(-Schönlein) purpura
+∞
42.0
38
*
M36.8*D80.1
ICD-10 Finland
Systemic disorders of connective tissue in hypogammaglobulinaemia
+∞
30.4
28
*
D69.0
ICD-10 Finland
Allergic purpura
354.7
29.0
28
*
126
Kela drug reimbursment
Chronic coagulation defects
323.0
26.8
26
*
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
24.8
23
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
7.4
23.7
75
206
D66
ICD-10 Finland
Hereditary factor VIII deficiency
+∞
23.7
22
*
B02BD02
ATC
coagulation factor VIII; parenteral, topical, urethral
+∞
20.3
19
*
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
16.0
20.0
33
27
M362, D66
ICD-10 Finland
NA
+∞
19.2
18
*
ZX120
NOMESCO Finland
Intravenous
9.5
18.4
40
58
M36.1*C90.0
ICD-10 Finland
Arthropathy in multiple myeloma
+∞
18.1
17
*
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
17.0
16
*
C90.0
ICD-10 Finland
Multiple myeloma
64.7
15.2
17
*
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
14.9
14
*
9732/3-C42.1
ICD-O-3
Plasma cell myeloma of bone marrow
168.4
14.8
15
*
M36.2
ICD-10 Finland
Haemophilic arthropathy
+∞
13.8
13
*
28600
ICD-8 Finland
Coagulation defects, Haemophilia
+∞
12.7
12
*
2860A
ICD-9 Finland
Coagulation defects, Congenital factor VIII disorder
+∞
12.7
12
*
D80.9
ICD-10 Finland
Immunodeficiency with predominantly antibody defects, unspecified
143.5
12.7
13
*
B02AA02
ATC
tranexamic acid; systemic
5.9
12.4
37
82
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
14.6
12.1
20
16
6BA02
NOMESCO Finland
NA
71.7
11.8
13
*
117
Kela drug reimbursment
Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue
12.3
11.8
21
20
N08.2*D69.0
ICD-10 Finland
Glomerular disorders in Henoch(-Schönlein) purpura
+∞
11.6
11
*
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
8.3
11.6
26
38
J01MA12
ATC
levofloxacin; systemic
4.8
11.6
43
121
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
22.6
11.5
16
8
R50.9
ICD-10 Finland
Fever, unspecified
5.0
11.4
40
106
M36.4
ICD-10 Finland
Arthropathy in hypersensitivity reactions classified elsewhere
+∞
10.6
10
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.9
10.5
37
98
H02AB07
ATC
prednisone; oral
5.2
10.1
33
80
B18.2
ICD-10 Finland
Chronic viral hepatitis C
22.2
10.0
14
7
H02AB06
ATC
prednisolone; systemic
3.4
9.9
72
353
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.3
9.7
71
347
R4110
NOMESCO Finland
Physiotherapy
3.7
9.6
52
201
ZX121
NOMESCO Finland
Central venous catheter
107.7
9.5
10
*
M05BA02
ATC
clodronic acid; systemic
+∞
9.5
9
*
D80.0
ICD-10 Finland
Hereditary hypogammaglobulinaemia
+∞
9.5
9
*
TPH04
NOMESCO Finland
Cathetrisation of vein
3.8
9.0
43
150
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
9.3
8.9
18
22
J01FF01
ATC
clindamycin; systemic
3.5
8.8
50
199
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
9.6
8.6
17
20
TPX10
NOMESCO Finland
Implantation of vascular injection port
14.1
8.6
14
11
D80.3
ICD-10 Finland
Selective deficiency of immunoglobulin G [IgG] subclasses
96.1
8.5
9
*
L04AX04
ATC
lenalidomide; oral
96.1
8.5
9
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
5.4
8.5
26
58
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
7.2
8.4
20
32
A49.9
ICD-10 Finland
Bacterial infection, unspecified
5.1
8.1
26
61
A02BC02
ATC
pantoprazole; systemic
3.0
7.9
87
533
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
5.4
7.7
23
50
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
7.7
7.6
17
25
153
Kela drug reimbursment
Lenalidomid
84.8
7.5
8
*
N02AA05
ATC
oxycodone; systemic
4.2
7.4
29
84
J01MA14
ATC
moxifloxacin; systemic
5.3
7.3
22
48
NC1AA
NOMESCO Finland
Elbow X-ray examination without contrast
9.7
7.3
14
16
C01CA24
ATC
epinephrine; parenteral
6.6
7.2
18
31
Z3226
NOMESCO Finland
Physiotherapist
3.5
7.1
37
134
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
6.8
7.1
17
28
L04AX01
ATC
azathioprine; systemic
9.1
7.0
14
17
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
14.9
7.0
11
8
UJF30
NOMESCO Finland
Ileoscopy through colon
5.3
7.0
21
46
TDM10
NOMESCO Finland
Puncture of maxillary antrum
7.9
6.9
15
21
M05BA04
ATC
alendronic acid; oral
6.2
6.9
18
33
NB1AA
NOMESCO Finland
Shoulder X-ray examination without contrast
6.2
6.9
18
33
J05AB11
ATC
valaciclovir; oral
3.9
6.9
29
89
ZXD10
NOMESCO Finland
Scheduled procedure
2.8
6.8
63
333
H02AB09
ATC
hydrocortisone; systemic
24.0
6.8
9
*
NE1AA
NOMESCO Finland
Pelvis X-ray examination
5.8
6.6
18
35
NB1AE
NOMESCO Finland
Shoulder ultrasound examination
15.3
6.5
10
7
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
10.0
6.4
12
13
NF1AA
NOMESCO Finland
Hip X-ray examination
5.3
6.4
19
41
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.9
6.4
44
194
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
5.5
6.3
18
37
D67
ICD-10 Finland
Hereditary factor IX deficiency
+∞
6.3
6
*
D80.8
ICD-10 Finland
Other immunodeficiencies with predominantly antibody defects
+∞
6.3
6
*
D83.0
ICD-10 Finland
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function
+∞
6.3
6
*
5BA08
NOMESCO Finland
NA
+∞
6.3
6
*
N08.2
ICD-10 Finland
Glomerular disorders in blood diseases and disorders involving the immune mechanism
+∞
6.3
6
*
N02AX02
ATC
tramadol; systemic, rectal
2.6
6.3
62
337
XW000
NOMESCO Finland
Bone marrow biopsy
7.3
6.2
14
21
NG1AA
NOMESCO Finland
Knee X-ray examination without contrast
4.3
6.1
22
59

Mortality – FinRegistry

Association

Association between endpoint M13_SYSTCONINOTH and mortality.

Females

Parameter HR [95% CI] p-value
M13_SYSTCONINOTH 5.224 [3.7, 7.37] < 0.001
Birth year 0.991 [0.98, 1.0] 0.051

During the follow-up period (1.1.1998 — 31.12.2019), 126 out of 560 females with M13_SYSTCONINOTH died.

Males

Parameter HR [95% CI] p-value
M13_SYSTCONINOTH 3.748 [2.61, 5.38] < 0.001
Birth year 0.987 [0.98, 1.0] 0.012

During the follow-up period (1.1.1998 — 31.12.2019), 135 out of 723 males with M13_SYSTCONINOTH died.

Mortality risk

Mortality risk for people of age

years, who have M13_SYSTCONINOTH.

N-year risk Females Males
1 0.508% 0.623%
5 2.696% 4.136%
10 6.368% 10.073%
15 12.205% 18.83%
20 21.608% 30.435%

Relationships between endpoints

Index endpoint: M13_SYSTCONINOTH – Systemic disorders of connective tissue in diseases classified elsewhere

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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