No definition available.
Osteochondrodysplasia with defects of growth of tubular bones and spine
Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
71 |
4. Check minimum number of eventsNone |
71 |
5. Include endpointsNone |
71 |
6. Filter based on genotype QC (FinnGen only) |
68 |
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
- Osteochondrodysplasia cum dysplasia ossium tubularium (longorum) et columnae vertebralis
Similar endpoints
↥List of similar endpoints to
Osteochondrodysplasia with defects of growth of tubular bones and spine
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 792 | 463 | 328 |
| Only index persons | 647 | 381 | 266 |
| 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 | 13.08 | 14.89 | 10.36 |
| Only index persons | 18.07 | 21.85 | 12.66 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 68 | 45 | 23 |
| Unadjusted period prevalence (%) | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | 29.43 | 33.81 | 20.86 |
-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
- 71
- Matched controls
- 710
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Z31.5
ICD-10 Finland
Genetic counselling
12.6
22.1
27
33
Q77.9
ICD-10 Finland
Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
+∞
20.8
19
*
Q77.82
ICD-10 Finland
Hair-cartilage hypoplasia
+∞
17.4
16
*
Q77.88
ICD-10 Finland
Other osteochondrodysplasia with defects of growth of tubular bones and spine
+∞
15.1
14
*
Q77.5
ICD-10 Finland
Dystrophic dysplasia
+∞
14.0
13
*
75640
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Other anomalies of ribs and sternum
+∞
11.8
11
*
Q77.4
ICD-10 Finland
Achondroplasia
+∞
11.8
11
*
7564A
ICD-9 Finland
Other congenital musculoskeletal anomalies, Chondrodystrophy
+∞
9.6
9
*
Q78.9
ICD-10 Finland
Osteochondrodysplasia, unspecified
+∞
9.6
9
*
L28
ICPC
Limited function/disability (L)
6.3
9.5
19
39
ZXE20
NOMESCO Finland
More than three and less than five hours
6.0
8.7
18
38
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
7.7
8.1
19
32
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
5.5
8.0
18
41
R4110
NOMESCO Finland
Physiotherapy
4.2
7.9
32
117
G47.3
ICD-10 Finland
Sleep apnoea
4.7
7.8
23
66
M16.7
ICD-10 Finland
Other secondary coxarthrosis
+∞
7.4
7
*
M16.6
ICD-10 Finland
Other secondary coxarthrosis, bilateral
+∞
7.4
7
*
Q77.7
ICD-10 Finland
Spondyloepiphyseal dysplasia
+∞
7.4
7
*
NE1AA
NOMESCO Finland
Pelvis X-ray examination
11.9
7.4
13
13
N03AX12
ATC
[U] gabapentin; oral
4.5
6.6
19
53
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
20.3
6.4
9
5
NFB60
NOMESCO Finland
Demanding prosthetic replacement of hip
+∞
6.3
6
*
Q77.2
ICD-10 Finland
Short rib syndrome
+∞
6.3
6
*
Q77.6
ICD-10 Finland
Chondroectodermal dysplasia
+∞
6.3
6
*
NFK30
NOMESCO Finland
Angulation, rotation or displacement osteotomy of femur
+∞
6.3
6
*
NA1AA
NOMESCO Finland
Cervical spine X-ray examination without contrast
14.3
6.3
10
8
NF1DA
NOMESCO Finland
X-ray of hips
16.9
6.1
9
6
NF1AA
NOMESCO Finland
Hip X-ray examination
10.6
6.0
11
12
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
14
11
15.48
8.82
2.4
4.9
—
—
—
0
0
21
65
4.17
6.34
7.6
8.1
1.20
1.27
mmol/l
0.72
21
59
43
222
3.38
5.89
3.7
2.7
81.50
76.32
nmol/l
0.43
43
206
43
240
3.01
4.85
10.1
6.5
1.23
1.22
mmol/l
0.43
38
214
6
5
12.92
3.83
5.8
2.6
551.33
349.80
u/ml
—
6
5
7
10
7.62
3.45
1.9
2.8
425.00
520.50
e6/l
—
7
10
38
228
2.43
3.33
10.3
7.8
1.22
1.22
mmol/l
0.06
38
218
38
242
2.23
2.75
2.7
2.6
—
—
—
0
0
33
202
2.18
2.60
5.9
5.5
37.17
36.95
g/l
0.07
33
194
50
362
2.29
2.57
16.2
11.7
4.07
3.81
e9/l
0.28
44
319
31
190
2.12
2.40
8.4
11.7
1.27
1.19
inr
—
10
50
11
42
2.91
2.26
2.3
1.5
—
—
—
0
0
11
42
2.91
2.26
2.4
1.3
—
—
—
0
0
5
9
5.88
2.25
2.0
2.0
—
—
—
0
0
13
56
2.62
2.20
4.5
7.1
104.92
104.30
mmol/l
0.18
13
56
8
26
3.33
2.08
1.1
1.7
—
—
—
0
0
20
110
2.14
1.99
2.5
2.5
—
—
—
0
0
6
16
3.99
1.98
7.3
16.6
24.17
25.27
mmol/l
—
6
16
5
11
4.80
1.97
2.0
1.9
—
—
—
0
0
5
11
4.80
1.97
1.4
1.4
—
—
—
0
0
26
159
2.00
1.96
3.1
3.2
2.37
2.36
mmol/l
0.22
26
148
7
22
3.41
1.93
6.1
14.1
0.43
0.81
%
—
7
22
7
23
3.26
1.85
6.1
13.6
0.91
1.93
%
—
7
23
0
45
0.00
1.56
0.0
1.3
—
—
—
0
0
15
81
2.08
1.54
3.3
2.5
5.33
3.22
e6/l
—
9
48
28
189
1.80
1.51
3.3
2.9
—
—
—
0
0
12
61
2.16
1.43
2.3
1.6
—
—
—
0
0
6
23
2.75
1.40
1.3
5.4
63.77
57.50
%
—
6
23
10
182
0.48
1.35
1.6
1.7
—
—
—
0
0
6
128
0.42
1.33
3.2
2.4
—
—
—
0
0
36
269
1.69
1.32
2.8
3.3
0.00
0.00
estimate
—
7
48
64
570
2.24
1.26
19.4
12.1
138.64
139.62
mmol/l
2.36
64
558
23
157
1.69
1.16
1.8
1.7
94.21
100.22
pmol/l
—
10
87
15
91
1.82
1.11
2.9
3.2
7.88
344.11
ng/l
—
8
48
15
92
1.80
1.08
3.3
2.4
0.30
0.70
e6/l
—
9
60
35
271
1.57
1.05
3.8
4.3
0.00
0.00
estimate
—
9
47
0
29
0.00
1.00
0.0
1.6
—
—
—
0
0
35
274
1.55
0.99
2.9
3.3
0.00
0.00
estimate
—
9
43
6
27
2.33
0.96
1.2
1.6
—
—
—
0
0
6
114
0.48
0.93
3.2
2.3
—
—
—
0
0
11
64
1.85
0.92
1.6
2.9
2.46
2.42
mmol/l
0.39
11
56
22
157
1.58
0.91
2.0
3.7
8.64
16.71
ng/l
—
8
86
8
45
1.87
0.88
8.5
11.8
25.39
25.46
mmol/l
—
8
45
6
33
1.89
0.81
2.5
1.7
—
—
—
0
0
0
26
0.00
0.80
0.0
1.5
—
—
—
0
0
0
26
0.00
0.80
0.0
1.5
—
—
—
0
0
0
26
0.00
0.80
0.0
1.5
—
—
—
0
0
40
333
1.46
0.79
9.0
5.9
5.80
6.26
mmol/l
1.14
40
307
5
25
2.07
0.74
2.6
1.6
—
—
—
0
0
11
69
1.70
0.73
2.8
2.2
14.10
15.16
umol/l
0.13
11
64
5
26
1.99
0.72
1.2
6.6
25.96
23.68
mmol/l
—
5
26
5
26
1.99
0.72
1.0
1.1
—
—
—
0
0
0
21
0.00
0.61
0.0
1.5
—
—
—
0
0
46
509
0.73
0.56
3.4
3.6
—
—
—
0
0
63
594
1.54
0.51
20.1
11.5
16.79
21.36
mg/l
1.00
50
435
11
150
0.68
0.48
1.5
1.7
1.39
1.32
mmol/l
0.10
11
134
0
15
0.00
0.41
0.0
2.3
—
—
—
0
0
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
0
17
0.00
0.41
0.0
1.3
—
—
—
0
0
5
35
1.46
0.40
2.2
3.9
—
—
—
0
0
0
19
0.00
0.39
0.0
1.5
—
1.58
—
0
5
6
41
1.51
0.37
6.0
4.0
24.17
24.82
mmol/l
—
6
41
0
14
0.00
0.20
0.0
1.4
—
220.07
—
0
14
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
5
67
0.73
0.18
5.0
3.7
2.04
1.35
ug/l
—
5
59
24
221
1.13
0.13
2.3
3.2
—
—
—
0
0
15
134
1.15
0.12
1.9
1.4
—
—
—
0
0
8
73
1.11
0.08
3.1
6.6
28.59
30.86
s
—
8
73
16
152
1.07
0.02
2.8
3.8
0.00
0.00
estimate
—
8
48
51
502
1.06
0.02
19.4
9.0
105.85
92.12
ml/min/173m2
3.46
42
391
0
7
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
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
14.62
—
0
5
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
8.66
—
0
5
0
9
0.00
-0.00
0.0
2.3
—
29.51
—
0
9
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
5.40
—
0
5
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE.| 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_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE – Osteochondrodysplasia with defects of growth of tubular bones and spine
GWS hits: 2
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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