No definition available.
Congenital malformations of spine and bony thorax
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MALFO_SPINE_BONY_THORAX
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
217 |
4. Check minimum number of eventsNone |
217 |
5. Include endpointsNone |
217 |
6. Filter based on genotype QC (FinnGen only) |
217 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q6[5-9]|Q7
- Name in latin
- Malformationes congenitae columnae vertebralis et ossium thoracis
Similar endpoints
↥List of similar endpoints to
Congenital malformations of spine and bony thorax
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2337 | 1195 | 1137 |
| Only index persons | 2038 | 1078 | 960 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.04 | 0.04 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 14.46 | 15.32 | 13.42 |
| Only index persons | 15.67 | 16.60 | 14.63 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 217 | 139 | 78 |
| Unadjusted period prevalence (%) | 0.04 | 0.05 | 0.03 |
| Median age at first event (years) | 25.96 | 30.86 | 17.24 |
-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
- 190
- Matched controls
- 1899
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q76.30
ICD-10 Finland
Hemivertebra fusion or failure of segmentation with scoliosis
+∞
53.7
49
*
Q76.48
ICD-10 Finland
Congenital anomalies of other vertebrae, not associated with scoliosis
+∞
38.9
36
*
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
29.5
31.3
42
18
Q76.1
ICD-10 Finland
Klippel-Feil syndrome
+∞
27.8
26
*
Q76.38
ICD-10 Finland
Congenital scoliosis due to other specified congenital bony malformation
+∞
26.7
25
*
Q76.9
ICD-10 Finland
Congenital malformation of bony thorax, unspecified
+∞
20.2
19
*
Q76.3
ICD-10 Finland
Congenital scoliosis due to congenital bony malformation
+∞
16.9
16
*
N06AX21
ATC
duloxetine; oral
6.9
16.8
44
79
N03AX12
ATC
gabapentin; oral
5.9
16.0
48
103
M41.1
ICD-10 Finland
Juvenile idiopathic scoliosis
21.3
14.6
21
11
N02AX02
ATC
tramadol; systemic, rectal
3.6
14.0
84
345
Q79.6
ICD-10 Finland
Ehlers-Danlos syndrome
+∞
13.7
13
*
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
7.1
12.5
31
51
N03AX16
ATC
pregabalin; oral
4.0
11.9
53
168
NAG53
NOMESCO Finland
Posterior or lateral fusion of thoracic spine with fixation, more than 3 vertebraea
69.4
11.8
13
*
M41.9
ICD-10 Finland
Scoliosis, unspecified
16.8
11.1
17
11
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
8.2
10.9
24
33
ZXE20
NOMESCO Finland
More than three and less than five hours
4.3
10.8
42
117
NA1AA
NOMESCO Finland
Cervical spine X-ray examination without contrast
9.7
10.6
21
24
Q76.0
ICD-10 Finland
Spina bifida occulta
+∞
10.5
10
*
WX408
NOMESCO Finland
General anesthesy, balanced
3.0
10.4
76
347
M79.0
ICD-10 Finland
Rheumatism, unspecified
13.2
10.1
17
14
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.0
9.8
42
127
UKC02
NOMESCO Finland
Cystoscopy
5.3
9.8
30
65
Q87.26
ICD-10 Finland
VATER association
+∞
9.4
9
*
Q76.5
ICD-10 Finland
Cervical rib
+∞
9.4
9
*
Q76.68
ICD-10 Finland
Other congenital malformations of ribs
+∞
9.4
9
*
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
5.0
8.7
28
64
Z31.5
ICD-10 Finland
Genetic counselling
4.8
8.7
29
69
XKC03
NOMESCO Finland
Water cystometry
17.3
8.7
13
8
NA1EA
NOMESCO Finland
Cervical spine X-ray examination with flexion
13.6
8.5
14
11
ZXD10
NOMESCO Finland
Scheduled procedure
2.5
8.4
91
508
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
4.3
8.4
31
82
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.3
8.3
45
164
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.3
8.3
31
83
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
3.3
8.2
44
158
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.8
8.1
35
107
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.5
8.1
81
431
N06AA09
ATC
amitriptyline; systemic
5.1
8.1
25
55
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
5.5
8.0
23
46
TPH07
NOMESCO Finland
Cathetrisation of artery
4.2
7.9
30
81
M54.2
ICD-10 Finland
Cervicalgia
5.1
7.8
24
52
ZXD05
NOMESCO Finland
Urgent procedure
2.5
7.7
72
368
Z3226
NOMESCO Finland
Physiotherapist
2.8
7.7
57
254
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.1
7.6
43
162
R4110
NOMESCO Finland
Physiotherapy
2.6
7.5
65
316
ZXE10
NOMESCO Finland
More than one and less than three hours
2.5
7.4
79
427
KC1EE
NOMESCO Finland
Ultrasound measurement of residual urine
4.8
7.4
24
56
Q76.2
ICD-10 Finland
Congenital spondylolisthesis
+∞
7.3
7
*
Q76.42
ICD-10 Finland
Congenital anomalies of sacral vetebrae
+∞
7.3
7
*
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
16.6
7.3
11
7
N03AE01
ATC
clonazepam; systemic
6.1
7.3
19
34
M54.5
ICD-10 Finland
Low back pain
2.5
7.3
68
345
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
8.0
7.0
15
20
ZXE30
NOMESCO Finland
More than five and less than seven hours
5.1
7.0
21
45
J45.9
ICD-10 Finland
Asthma, unspecified
3.0
6.9
43
171
Z01.8
ICD-10 Finland
Other specified special examinations
2.8
6.9
48
204
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
17.5
6.8
10
6
M41.5
ICD-10 Finland
Other secondary scoliosis
41.6
6.8
8
*
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
6.9
6.8
16
25
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
4.4
6.8
24
61
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
23.5
6.7
9
*
Q25.0
ICD-10 Finland
Patent ductus arteriosus
15.0
6.5
10
7
ZXA05
NOMESCO Finland
Left side
2.7
6.4
48
212
M35.7
ICD-10 Finland
Hypermobility syndrome
9.8
6.4
12
13
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.5
6.4
55
265
NA3AD
NOMESCO Finland
Lumbar spine and sacrum CT examination
18.8
6.3
9
5
R1210
NOMESCO Finland
Medical assessment of need and possibilities to rehabilitation
18.8
6.3
9
5
UGC12
NOMESCO Finland
Flexible bronchoscopy
6.1
6.3
16
28
Q76.40
ICD-10 Finland
Congenital absence of vertebrae without scoliosis
+∞
6.3
6
*
Q66.0
ICD-10 Finland
Talipes equinovarus
+∞
6.3
6
*
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
+∞
6.3
6
*
M23.5
ICD-10 Finland
Chronic instability of knee
+∞
6.3
6
*
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
8.1
6.2
13
17
M54.6
ICD-10 Finland
Pain in thoracic spine
4.4
6.1
21
52
J45.8
ICD-10 Finland
Mixed asthma
7.7
6.0
13
18
TPH04
NOMESCO Finland
Cathetrisation of vein
2.6
6.0
46
206
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MALFO_SPINE_BONY_THORAX and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_SPINE_BONY_THORAX | 1.972 [1.38, 2.82] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.883 |
During the follow-up period (1.1.1998 — 31.12.2019), 54 out of 1044 females with Q17_CONGEN_MALFO_SPINE_BONY_THORAX died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_SPINE_BONY_THORAX.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.158% | No data |
| 5 | 1.134% | No data |
| 10 | 2.98% | No data |
| 15 | 6.321% | No data |
| 20 | 11.558% | No data |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_SPINE_BONY_THORAX – Congenital malformations of spine and bony thorax
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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