osteochondrodysplasia: A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
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. |
318 |
4. Check minimum number of eventsNone |
318 |
5. Include endpointsNone |
318 |
6. Filter based on genotype QC (FinnGen only) |
318 |
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
- Aliae osteochondrodysplasiae
Similar endpoints
↥List of similar endpoints to
Other osteochondrodysplasias
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2943 | 1494 | 1438 |
| Only index persons | 2617 | 1336 | 1281 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.04 | 0.04 |
| Only index persons | 0.05 | 0.05 | 0.05 |
| Median age at first event (years) | |||
| Whole population | 20.01 | 23.59 | 15.99 |
| Only index persons | 22.24 | 27.33 | 16.94 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 318 | 194 | 124 |
| Unadjusted period prevalence (%) | 0.06 | 0.07 | 0.05 |
| Median age at first event (years) | 36.26 | 36.16 | 36.41 |
-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
- 292
- Matched controls
- 2920
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q78.00
ICD-10 Finland
Congenital osteogenesis imperfecta
+∞
89.2
81
*
Q78.6
ICD-10 Finland
Multiple congenital exostoses
+∞
79.9
73
*
Q78.9
ICD-10 Finland
Osteochondrodysplasia, unspecified
+∞
45.0
42
*
Q78.48
ICD-10 Finland
Enchondromatosis
+∞
36.2
34
*
Z31.5
ICD-10 Finland
Genetic counselling
9.3
32.9
73
101
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
11.0
32.6
65
74
Q78.1
ICD-10 Finland
Polyostotic fibrous dysplasia
+∞
27.5
26
*
NF3AA
NOMESCO Finland
Femur X-ray examination
35.7
25.2
32
10
Q78.08
ICD-10 Finland
Osteogenesis imperfecta tarda
+∞
24.3
23
*
7564A
ICD-9 Finland
Other congenital musculoskeletal anomalies, Chondrodystrophy
+∞
23.2
22
*
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
16.8
23.2
37
25
NG4AA
NOMESCO Finland
Lower leg X-ray examination
13.1
22.0
39
34
Q78.88
ICD-10 Finland
Other specified osteochondrodysplasias
+∞
20.0
19
*
75650
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Chondrodystrophy
+∞
20.0
19
*
Q78.2
ICD-10 Finland
Osteopetrosis
+∞
20.0
19
*
D16.2
ICD-10 Finland
Benign neoplasm: Long bones of lower limb
+∞
19.0
18
*
D48.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Bone and articular cartilage
23.6
18.5
26
12
NE1AA
NOMESCO Finland
Pelvis X-ray examination
8.7
18.3
40
52
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
5.2
16.5
54
122
S72.3
ICD-10 Finland
Fracture of shaft of femur
30.5
15.4
20
7
Q78.40
ICD-10 Finland
Enchondromatosis
+∞
14.7
14
*
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
3.0
14.2
102
446
NFU20
NOMESCO Finland
Removal of internal fixation device from femur
25.3
14.0
19
8
R4110
NOMESCO Finland
Physiotherapy
2.9
13.7
104
469
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.9
13.2
97
428
S82.2
ICD-10 Finland
Fracture of shaft of tibia
15.0
13.0
21
15
NFJ60
NOMESCO Finland
Internal fixation of fracture of other parts of femur with intramedullary nail
33.7
12.7
16
5
D16.1
ICD-10 Finland
Benign neoplasm: Short bones of upper limb
73.1
12.7
14
*
9165
FHL
Removal of osteosynthesis material
18.4
12.7
19
11
TNX34
NOMESCO Finland
Major custom molded cast, unspecified region
10.4
12.5
24
25
ZXA05
NOMESCO Finland
Left side
3.0
12.2
84
351
M05BA04
ATC
alendronic acid; oral
6.0
12.2
34
63
NF1AA
NOMESCO Finland
Hip X-ray examination
5.5
12.1
36
73
H90.6
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, bilateral
12.5
11.5
20
17
WX1PA
NOMESCO Finland
Total body mineral density measurement with Dual energy X-ray absorptiometry (DXA)
36.6
11.4
14
*
NJ3DA
NOMESCO Finland
Long bones of extremities X-ray examination
36.6
11.4
14
*
L28
ICPC
Limited function/disability (L)
3.8
11.3
50
151
M81.9
ICD-10 Finland
Osteoporosis, unspecified
10.2
10.9
21
22
NFK30
NOMESCO Finland
Angulation, rotation or displacement osteotomy of femur
62.3
10.7
12
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
8.2
10.6
23
30
TNX33
NOMESCO Finland
Custom moulded cast, unspecified region
5.3
10.3
31
64
DFF00
NOMESCO Finland
Pure tone audiometry
4.3
9.7
36
93
X59
ICD-10 Finland
Exposure to unspecified factor
2.6
9.6
76
343
NG1AA
NOMESCO Finland
Knee X-ray examination without contrast
3.5
9.5
46
149
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
31.1
9.5
12
*
NGK30
NOMESCO Finland
Angulation, rotation or displacement osteotomy of knee or lower leg
103.2
9.5
10
*
Q78.80
ICD-10 Finland
Osteopoiesis
+∞
9.4
9
*
X58
ICD-10 Finland
Exposure to other specified factors
2.9
9.3
60
238
NE1AD
NOMESCO Finland
Pelvis and hip bones CT examination
16.2
9.1
14
9
NFR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of hip or thigh
37.9
9.1
11
*
5BA08
NOMESCO Finland
NA
19.3
9.0
13
7
ZXA00
NOMESCO Finland
Right side
2.5
9.0
79
375
9102
FHL
Trepanation or removal of the local bone process
24.9
9.0
12
5
M05BA07
ATC
risedronic acid; oral
8.6
8.7
18
22
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
3.6
8.7
39
119
Z3226
NOMESCO Finland
Physiotherapist
2.5
8.6
75
355
ZXD10
NOMESCO Finland
Scheduled procedure
2.2
8.5
118
693
NGR20
NOMESCO Finland
Intralesional or marginal excision of tumor of knee or lower leg
92.6
8.5
9
*
5BA03
NOMESCO Finland
NA
+∞
8.4
8
*
NFK10
NOMESCO Finland
Fenestration or partial or total excision of bone of femur
+∞
8.4
8
*
K00.51
ICD-10 Finland
Dentinogenesis imperfecta
+∞
8.4
8
*
M85.0
ICD-10 Finland
Fibrous dysplasia (monostotic)
+∞
8.4
8
*
D16.0
ICD-10 Finland
Benign neoplasm: Scapula and long bones of upper limb
+∞
8.4
8
*
H05BA01
ATC
calcitonin (salmon synthetic); nasal, parenteral
8.5
8.2
17
21
NA1AA
NOMESCO Finland
Cervical spine X-ray examination without contrast
6.6
8.2
20
32
RK110
NOMESCO Finland
NA
34.4
8.1
10
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.2
8.1
111
647
M79.6
ICD-10 Finland
Pain in limb
2.1
8.0
109
634
SPAT1229
SPAT
Assessment of need for aid
4.7
8.0
26
59
TNX50
NOMESCO Finland
Removal of cutom molded cast and internal stretch
4.3
7.8
28
70
ZXE20
NOMESCO Finland
More than three and less than five hours
2.8
7.8
52
210
N02BE01
ATC
paracetamol; systemic, rectal
2.3
7.7
235
1887
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.7
7.6
54
226
ND2AA
NOMESCO Finland
Hand and fingers X-ray examination
3.1
7.6
42
148
E883A
ICD-9 Finland
Fall into hole or other opening in surface
5.6
7.5
21
40
NBR20
NOMESCO Finland
Intralesional or marginal excision of soft tissue tumour of shoulder or upper arm
82.1
7.4
8
*
3870A
ICD-9 Finland
Otosclerosis involving oval window, nonobliterative
82.1
7.4
8
*
NDR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of wrist or hand
8.7
7.4
15
18
NGU20
NOMESCO Finland
Removal of internal fixation device from knee or lower leg
9.7
7.4
14
15
ZZH21
NOMESCO Finland
Graft of patients own bone, small pieces
9.7
7.4
14
15
RK120
NOMESCO Finland
NA
+∞
7.3
7
*
NFK99
NOMESCO Finland
Other operation on bone of femur
+∞
7.3
7
*
7565A
ICD-9 Finland
Other congenital musculoskeletal anomalies, Osteodystrophies
+∞
7.3
7
*
N02AX02
ATC
tramadol; systemic, rectal
2.1
7.3
110
663
NB6AA
NOMESCO Finland
Humerus X-ray examination
12.4
7.1
12
10
EBA15
NOMESCO Finland
Extraction of large number of teeth
5.4
7.1
20
39
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
3.7
7.1
30
88
NCU20
NOMESCO Finland
Removal of internal fixation device from elbow or forearm
17.2
6.8
10
6
S42.1
ICD-10 Finland
Fracture of scapula
17.2
6.8
10
6
H80.0
ICD-10 Finland
Otosclerosis involving oval window, nonobliterative
23.1
6.7
9
*
AA1AA
NOMESCO Finland
Head X-ray examination
12.6
6.6
11
9
ZXE00
NOMESCO Finland
One hour or less
1.9
6.5
127
833
NE1CG
NOMESCO Finland
Pelvic, hip and femur extensive MRI examination with high intensity magnet
7.7
6.5
14
19
S32.4
ICD-10 Finland
Fracture of acetabulum
71.3
6.4
7
*
7569X
ICD-9 Finland
Other congenital musculoskeletal anomalies, Other and unspecified anomalies of musculoskeletal system
71.3
6.4
7
*
NGJ60
NOMESCO Finland
Internal fixation of fracture of knee or lower leg using intramedullary nail, other or unspecified
14.7
6.4
10
7
WX204
NOMESCO Finland
Axillary plexus blockaced
6.2
6.4
16
27
L99
ICPC
Musculoskeletal disease other
9.6
6.3
12
13
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.3
6.3
59
287
75665
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Exostosis cartilaginea multiplex
+∞
6.3
6
*
L82
ICPC
Congenital anomaly musculoskeletal
+∞
6.3
6
*
NFB60
NOMESCO Finland
Demanding prosthetic replacement of hip
27.3
6.3
8
*
WX408
NOMESCO Finland
General anesthesy, balanced
2.0
6.2
92
542
L13
ICPC
Hip symptom/complaint
2.7
6.2
43
178
ZX120
NOMESCO Finland
Intravenous
2.9
6.1
36
135
WX212
NOMESCO Finland
Femoral plexus blockade
8.9
6.1
12
14
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.8
6.1
39
154
TPH04
NOMESCO Finland
Cathetrisation of vein
2.2
6.0
63
320
Z3229
NOMESCO Finland
Other healthcare associate professional
3.0
6.0
34
123
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_OSTEOCHONDROD and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_OSTEOCHONDROD | 1.735 [1.24, 2.42] | 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.011 |
During the follow-up period (1.1.1998 — 31.12.2019), 106 out of 1266 females with Q17_OTHER_OSTEOCHONDROD died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_OSTEOCHONDROD | 1.75 [1.36, 2.26] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 87 out of 1206 males with Q17_OTHER_OSTEOCHONDROD died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_OSTEOCHONDROD.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.14% | 0.289% |
| 5 | 0.742% | 1.79% |
| 10 | 2.147% | 4.824% |
| 15 | 3.782% | 9.297% |
| 20 | 6.659% | 15.819% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_OSTEOCHONDROD – Other osteochondrodysplasias
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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