≡ Risteys
R14

Documentation Changelog GitHub Contact & Feedback

Osteochondrodysplasia with defects of growth of tubular bones and spine

EFO Endpoint Browser PheWeb

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

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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

Registry filters:

  • Hospital discharge: ICD-10 — Q77
  • Cause of death: ICD-10 — Q77

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

76

4. Check minimum number of events

None

76

5. Include endpoints

None

76

6. Filter based on genotype QC (FinnGen only)

69

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.

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 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 69 46 23
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 29.49 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
72
Matched controls
720
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q77.9
ICD-10 Finland
Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
+∞
20.8
19
*
Z31.5
ICD-10 Finland
Genetic counselling
10.8
19.7
27
38
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
+∞
16.2
15
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
9.5
15.9
23
34
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
*
L28
ICPC
Limited function/disability (L)
5.9
9.9
22
50
7564A
ICD-9 Finland
Other congenital musculoskeletal anomalies, Chondrodystrophy
+∞
9.6
9
*
Q78.9
ICD-10 Finland
Osteochondrodysplasia, unspecified
+∞
9.6
9
*
M16.7
ICD-10 Finland
Other secondary coxarthrosis
+∞
8.5
8
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
5.6
8.5
19
43
ZXE20
NOMESCO Finland
More than three and less than five hours
5.8
8.4
18
39
NE1AA
NOMESCO Finland
Pelvis X-ray examination
11.3
7.7
14
15
R4110
NOMESCO Finland
Physiotherapy
4.0
7.6
33
126
M16.6
ICD-10 Finland
Other secondary coxarthrosis, bilateral
+∞
7.4
7
*
NFB60
NOMESCO Finland
Demanding prosthetic replacement of hip
+∞
7.4
7
*
Q77.7
ICD-10 Finland
Spondyloepiphyseal dysplasia
+∞
7.4
7
*
G47.3
ICD-10 Finland
Sleep apnoea
4.2
7.1
24
76
NF1AA
NOMESCO Finland
Hip X-ray examination
10.0
6.3
12
14
NFK30
NOMESCO Finland
Angulation, rotation or displacement osteotomy of femur
+∞
6.3
6
*
Q77.2
ICD-10 Finland
Short rib syndrome
+∞
6.3
6
*
Q77.6
ICD-10 Finland
Chondroectodermal dysplasia
+∞
6.3
6
*
N03AX12
ATC
[U] gabapentin; oral
4.3
6.2
19
55
NA1AA
NOMESCO Finland
Cervical spine X-ray examination without contrast
12.7
6.0
10
9

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
23
79
3.81
5.98
8.0
8.1
1.18
1.23
mmol/l
0.54
23
69
8
9
9.81
4.40
1.3
1.2
—
—
—
0
0
9
13
7.73
4.31
2.9
6.2
42.16
31.68
%
—
9
13
40
226
2.73
4.21
12.3
9.6
—
—
—
0
0
10
20
5.62
3.85
2.6
1.1
—
—
—
0
0
31
161
2.63
3.77
6.4
3.4
7.41
7.40
ph
0.39
24
116
43
262
2.59
3.76
11.6
8.7
1.22
1.22
mmol/l
0.12
43
251
6
6
10.75
3.56
7.2
2.8
554.67
461.17
u/ml
—
6
6
7
10
7.61
3.45
1.9
2.8
0.43
0.52
e9/l
—
7
10
9
22
4.52
2.99
1.4
1.8
—
—
—
0
0
24
122
2.45
2.95
7.3
4.6
—
—
—
0
0
18
84
2.52
2.62
1.7
1.3
—
—
—
0
0
49
352
2.23
2.54
11.7
9.1
0.04
0.04
e9/l
0.02
42
309
50
363
2.24
2.51
13.6
9.8
0.19
0.20
e9/l
0.14
44
332
14
59
2.70
2.47
4.2
10.0
23.57
24.35
mmol/l
0.30
14
59
36
232
2.10
2.44
6.4
5.8
37.65
37.17
g/l
0.20
36
225
17
80
2.47
2.42
3.8
9.8
6.07
5.88
kpa
0.31
17
80
11
40
3.06
2.40
3.4
6.4
71.15
70.19
e9/l
0.02
11
32
52
389
2.21
2.34
17.9
12.7
3.99
3.80
e9/l
0.20
46
343
32
200
2.08
2.33
3.6
2.9
82.43
40.17
e6/l
0.23
26
152
15
68
2.52
2.30
3.3
2.5
—
—
—
0
0
33
210
2.05
2.28
17.2
8.0
—
—
—
0
0
48
351
2.10
2.26
12.0
9.2
0.54
0.54
e9/l
0.08
42
310
45
325
2.03
2.15
16.1
11.4
0.00
0.00
e9/l
0.71
39
263
39
268
1.99
2.14
3.2
3.0
—
—
estimate
—
0
0
35
232
1.99
2.13
4.0
3.5
23.92
36.20
e6/l
0.27
27
159
6
15
4.26
2.08
2.5
1.6
12.08
8.88
mg/l
—
6
15
15
72
2.37
2.04
7.2
11.5
—
—
—
0
0
15
73
2.33
1.98
6.1
9.7
104.73
104.33
mmol/l
0.11
15
73
5
11
4.79
1.97
1.6
2.7
4.42
4.73
pmol/l
—
5
11
12
54
2.47
1.86
11.9
10.2
7.44
7.44
ph
—
6
33
8
29
2.97
1.85
7.6
16.0
0.45
0.73
%
—
8
29
29
190
1.88
1.75
3.2
3.1
2.37
2.37
mmol/l
0.12
29
179
8
32
2.68
1.65
7.6
14.8
0.99
1.64
%
—
8
32
27
176
1.85
1.64
3.7
2.6
—
—
estimate
—
0
0
26
171
1.81
1.52
3.7
2.7
0.20
0.27
e6/l
0.20
20
122
7
28
2.66
1.49
8.9
15.1
23.86
25.47
mmol/l
—
7
28
7
142
0.44
1.40
1.4
1.7
—
—
—
0
0
24
160
1.75
1.32
4.3
2.5
—
—
—
0
0
5
18
2.90
1.30
1.0
1.8
—
—
—
0
0
8
36
2.37
1.29
1.9
18.7
1.16
1.14
mg/l
—
8
36
6
25
2.52
1.27
13.2
4.3
—
—
—
0
0
15
88
1.89
1.23
3.4
2.3
12.67
14.85
umol/l
0.41
15
81
50
412
1.70
1.22
5.4
3.9
—
—
—
0
0
27
190
1.67
1.22
3.9
1.7
1.79
2.50
g/l
1.17
22
106
27
190
1.67
1.22
5.2
2.5
—
—
—
0
0
13
73
1.95
1.20
3.6
10.0
7.15
4.72
kpa
0.99
13
73
7
31
2.39
1.14
8.6
15.4
94.30
94.47
%
—
7
31
9
46
2.09
1.08
7.4
13.7
8.37
5.32
mmol/l
—
9
46
16
101
1.75
1.04
2.9
3.3
7.89
308.15
ng/l
—
9
54
12
69
1.89
1.04
1.6
1.1
—
—
—
0
0
10
54
1.99
1.02
9.2
14.6
25.21
25.51
mmol/l
—
10
54
9
50
1.91
1.01
7.2
15.9
1.00
1.38
mmol/l
—
9
50
9
51
1.87
0.99
1.2
1.7
—
—
—
0
0
43
354
1.53
0.95
9.6
6.8
5.77
6.22
mmol/l
1.28
43
331
13
81
1.74
0.88
3.6
2.3
2.33
2.43
g/l
0.35
13
74
40
329
1.49
0.85
4.0
3.5
0.00
0.00
estimate
—
7
54
0
24
0.00
0.81
0.0
1.4
—
—
—
0
0
0
24
0.00
0.81
0.0
1.4
—
1.38
—
0
19
0
25
0.00
0.80
0.0
1.6
—
—
—
0
0
7
41
1.78
0.72
6.1
4.1
23.91
24.82
mmol/l
—
7
41
19
138
1.51
0.72
2.2
3.3
2.81
1.06
mg/l
0.43
13
112
7
43
1.69
0.69
6.7
4.2
—
—
—
0
0
5
29
1.78
0.65
1.8
6.0
26.12
23.79
mmol/l
—
5
29
65
607
1.73
0.64
24.5
14.5
138.71
139.72
mmol/l
2.73
65
596
23
179
1.42
0.62
2.2
3.7
8.92
16.45
ng/l
2.97
11
97
0
20
0.00
0.61
0.0
1.4
—
—
—
0
0
39
333
1.37
0.61
4.1
3.5
0.00
0.00
estimate
—
9
51
6
37
1.68
0.57
1.2
1.1
—
—
—
0
0
66
622
1.73
0.57
23.6
13.5
17.18
21.22
mg/l
0.86
54
481
10
66
1.60
0.56
1.3
1.4
—
—
—
0
0
25
201
1.37
0.55
2.1
1.8
98.24
100.35
pmol/l
0.09
12
110
21
261
0.72
0.54
3.2
2.7
—
—
—
0
0
38
329
1.33
0.52
4.0
3.4
0.00
0.00
estimate
—
10
57
7
46
1.58
0.50
1.7
1.3
—
—
—
0
0
12
88
1.44
0.43
1.7
2.5
2.44
2.42
mmol/l
0.15
12
80
45
407
1.28
0.40
3.1
3.1
—
—
—
0
0
9
66
1.41
0.40
1.2
1.5
—
—
—
0
0
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
5
35
1.46
0.40
2.2
11.0
0.62
0.70
%
—
5
35
6
42
1.47
0.36
1.3
1.8
—
—
—
0
0
6
46
1.33
0.34
2.2
1.5
—
—
—
0
0
27
234
1.25
0.33
2.0
1.8
—
—
—
0
0
7
52
1.38
0.32
1.7
1.4
—
—
—
0
0
19
159
1.26
0.31
6.5
5.8
—
—
—
0
0
7
56
1.28
0.30
1.7
1.3
—
—
—
0
0
7
56
1.28
0.30
1.7
1.3
—
—
—
0
0
7
56
1.28
0.30
1.7
1.3
—
—
—
0
0
22
191
1.22
0.26
2.8
2.4
0.00
0.02
estimate
—
9
49
5
37
1.38
0.24
2.2
10.5
1.00
1.47
%
—
5
37
5
41
1.24
0.22
7.2
3.4
7.20
7.32
ph
—
5
33
9
110
0.79
0.22
1.9
2.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
7
57
1.25
0.19
1.7
1.4
—
—
—
0
0
67
651
1.42
0.17
27.8
15.0
55.06
68.30
umol/l
5.35
67
642
6
76
0.77
0.16
4.7
3.9
2.75
1.29
ug/l
—
6
68
6
78
0.75
0.16
1.3
1.8
—
—
—
0
0
9
81
1.13
0.16
2.0
1.3
—
—
—
0
0
13
147
0.86
0.13
4.7
3.7
8.17
11.18
mg/mmol
—
8
91
5
45
1.12
0.10
2.0
2.4
—
—
—
0
0
15
165
0.89
0.10
3.1
3.9
1.02
1.02
kg/l
—
7
104
7
63
1.12
0.08
1.1
1.8
—
—
—
0
0
6
74
0.79
0.08
2.5
1.3
—
—
—
0
0
19
178
1.09
0.06
3.9
3.8
0.00
0.00
estimate
—
9
57
28
270
1.06
0.04
2.8
3.3
5.88
6.23
ph
0.69
13
149
16
151
1.08
0.03
3.3
3.9
—
—
—
0
0
17
179
0.93
0.03
2.2
2.5
—
—
—
0
0
16
152
1.07
0.02
1.3
1.8
—
—
—
0
0
26
252
1.05
0.02
2.7
3.3
0.11
0.00
estimate
—
9
46
12
113
1.07
0.02
1.5
1.7
—
—
—
0
0
12
114
1.06
0.01
1.6
1.3
1.00
3.66
u/ml
—
5
49
15
146
1.03
0.00
3.4
2.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
1.00
—
0
6
0
6
0.00
0.00
0.0
21.5
—
1093.67
—
0
6
0
6
0.00
0.00
0.0
11.8
—
662.17
—
0
6
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
41.0
—
6.92
—
0
5
9
91
0.99
-0.00
1.2
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.6
—
5.22
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
20
200
1.00
-0.00
2.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
1.61
—
0
8
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
92.36
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
22.22
—
0
5

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE and mortality.

Females

No data

Males

No data

Mortality 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
loading spinner Loading data