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Other congenital malformations of spinal cord

Q17_OTHER_CONGEN_MALFO_SPINAL_CORD

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 Q06
  • Cause of death: ICD-10 Q06

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

52

4. Check minimum number of events

None

52

5. Include endpoints

None

52

6. Filter based on genotype QC (FinnGen only)

47

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_NERVOUS_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q0
Name in latin
Aliae malformationes congenitae medullae spinalis

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 561 319 242
Only index persons 443 266 177
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 - 14.91 10.34
Only index persons 22.35 26.14 16.64

-FinnGen-

Key figures

All Female Male
Number of individuals 47 29 18
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 45.96 47.08 44.14

-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

Not a core endpoint, no data to show.

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
52
Matched controls
520
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q06.8
ICD-10 Finland
Other specified congenital malformations of spinal cord
+∞
27.5
24
*
Q06.9
ICD-10 Finland
Congenital malformation of spinal cord, unspecified
+∞
15.3
14
*
ABE99
NOMESCO Finland
Other operation for spinal malformation
+∞
8.6
8
*
XKC03
NOMESCO Finland
Water cystometry
21.7
8.5
12
7
UKC02
NOMESCO Finland
Cystoscopy
8.3
7.8
18
31
Q05.9
ICD-10 Finland
Spina bifida, unspecified
+∞
7.5
7
*
204
Kela drug reimbursment
Leukemia lymphatica
24.2
7.5
10
5
G04AC01, ,
ATC
17.2
6.7
10
7
S97
ICPC
Chronic ulcer skin
12.3
6.4
11
11
TKC22
NOMESCO Finland
Catheterisation instruction
+∞
6.4
6
*
Q06.3
ICD-10 Finland
Other congenital cauda equina malformations
+∞
6.4
6
*
G95.0
ICD-10 Finland
Syringomyelia and syringobulbia
+∞
6.4
6
*
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
5.0
6.3
17
46

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
30
132
4.01
5.73
2.6
2.4
—
—
—
0
0
7
8
9.87
3.90
6.1
7.4
24.59
25.40
mmol/l
—
7
8
12
31
4.71
3.79
10.2
6.4
0.67
2.12
mmol/l
1.71
12
25
7
13
6.03
2.98
7.1
8.6
96.00
94.65
%
—
7
13
11
34
3.82
2.94
4.8
7.1
106.00
104.24
mmol/l
0.49
11
34
21
105
2.68
2.82
3.6
5.1
96.86
89.72
%
0.85
21
105
6
11
6.00
2.62
15.7
6.5
—
—
—
0
0
24
134
2.47
2.53
1.5
1.8
100.34
95.61
pmol/l
—
9
64
6
14
4.69
2.22
7.5
7.7
0.67
0.87
%
—
6
14
21
117
2.33
2.16
10.5
3.6
—
—
—
0
0
16
79
2.48
2.14
1.3
1.3
25.75
23.72
nmol/l
0.15
16
66
20
110
2.33
2.11
6.5
3.7
—
—
—
0
0
8
26
3.44
2.11
7.3
1.9
—
—
—
0
0
37
265
2.37
2.08
3.1
3.2
—
—
—
0
0
16
83
2.34
1.90
8.6
4.6
—
—
—
0
0
5
12
4.48
1.87
3.4
1.5
—
—
—
0
0
24
149
2.13
1.86
1.2
1.5
—
—
—
0
0
6
18
3.62
1.80
24.5
7.7
123.17
130.83
g/l
—
6
18
19
120
1.92
1.33
11.3
2.6
—
—
—
0
0
5
18
2.96
1.31
4.0
6.1
—
—
—
0
0
37
292
1.93
1.28
10.6
4.1
—
—
—
0
0
5
19
2.80
1.24
29.2
7.9
23.50
24.32
mmol/l
—
5
19
10
51
2.19
1.20
5.0
2.2
—
—
—
0
0
5
20
2.65
1.18
2.4
2.0
—
—
—
0
0
5
20
2.65
1.18
1.8
1.4
—
—
—
0
0
5
21
2.52
1.11
15.6
5.0
—
—
—
0
0
9
49
2.01
1.05
21.3
9.6
—
—
—
0
0
10
55
2.01
1.00
6.2
1.7
—
—
—
0
0
14
88
1.81
0.97
2.7
2.2
1.88
2.86
mg/l
1.58
14
80
8
42
2.07
0.94
31.6
12.4
25.50
25.14
mmol/l
—
8
42
8
135
0.52
0.89
1.3
2.2
—
—
—
0
0
10
58
1.90
0.87
2.7
3.0
7.39
15.44
umol/l
—
10
53
0
25
0.00
0.81
0.0
1.3
—
—
—
0
0
13
87
1.66
0.72
2.5
5.2
2.02
2.03
ug/l
0.00
13
75
5
28
1.87
0.68
8.6
9.0
0.64
1.43
mmol/l
—
5
28
8
52
1.63
0.63
2.9
1.5
—
—
—
0
0
5
30
1.74
0.63
3.8
4.1
—
—
—
0
0
8
53
1.60
0.62
1.4
1.2
—
—
—
0
0
0
22
0.00
0.61
0.0
1.3
—
—
—
0
0
6
35
1.81
0.60
35.3
11.9
—
—
—
0
0
29
337
0.68
0.60
5.1
4.1
11.62
10.51
mm/h
0.17
29
315
7
109
0.59
0.56
1.3
3.4
—
—
—
0
0
7
45
1.64
0.51
1.0
1.2
—
—
—
0
0
7
46
1.60
0.51
11.1
8.5
—
—
—
0
0
7
49
1.49
0.48
3.1
2.0
—
—
—
0
0
7
102
0.64
0.45
5.1
3.2
—
—
—
0
0
8
111
0.67
0.43
2.6
1.9
—
—
—
0
0
0
15
0.00
0.42
0.0
1.0
—
4.66
—
0
10
0
16
0.00
0.42
0.0
6.4
—
—
—
0
0
23
196
1.31
0.36
3.3
2.9
69.96
84.81
ug/l
0.44
23
186
5
37
1.39
0.24
1.2
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
4.5
—
8.60
—
0
10
0
10
0.00
0.21
0.0
4.5
—
5.17
—
0
10
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.5
—
—
—
0
0
24
217
1.20
0.19
6.5
7.4
—
—
—
0
0
5
43
1.18
0.10
1.2
1.2
—
—
—
0
0
12
134
0.86
0.10
5.3
8.9
—
—
—
0
0
7
63
1.13
0.08
1.1
1.4
—
590.00
—
0
16
6
70
0.84
0.08
2.2
1.8
—
—
—
0
0
11
108
1.02
0.00
2.0
2.4
171.09
125.16
u/l
0.28
11
103
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
3.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
4.0
—
14.67
—
0
6
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
3.3
—
—
—
0
0
0
6
0.00
0.00
0.0
3.0
—
30.50
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
93.88
—
0
5
0
8
0.00
-0.00
0.0
5.8
—
1.54
—
0
8
15
150
1.00
-0.00
2.9
1.9
—
—
—
0
0
6
63
0.95
-0.00
1.7
1.6
—
—
—
0
0
5
54
0.92
-0.00
1.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
5.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
9.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
8
87
0.91
-0.00
1.9
1.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
1836.20
—
0
5
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
6.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
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
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_SPINAL_CORD and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_SPINAL_CORD.

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: Q17_OTHER_CONGEN_MALFO_SPINAL_CORD – Other congenital malformations of spinal cord

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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