This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Diastrofic dysplasy
Q17_DIASTROFIC_DYSP
No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519870 |
1. Apply sex-specific ruleNone |
519870 |
2. Check conditionsNone |
519870 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
13 |
4. Check minimum number of eventsNone |
13 |
5. Include endpointsNone |
13 |
6. Filter based on genotype QC (FinnGen only) |
13 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Diastrofic dysplasy
based on the number of shared cases.
Similar with more cases:
- Osteochondrodysplasia with defects of growth of tubular bones and spine
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations and deformations of the musculoskeletal system, including avohilmo
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 13 | 12 | - |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | - |
| Median age at first event (years) | 34.87 | 34.14 | - |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-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.
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.
No data available
TimeCodeWAS
↥TimeCodeWAS is a tool for exploring time-dependent associations between an endpoint and health codes (diagnoses, lab tests, procedures, etc.).
The TimeCodeWAS analysis is done in three steps:
- Build a matched case-control set for this endpoint. Each case is matched to 5–10 controls on sex and year of birth, and controls must be at risk at the same age as the case's age of onset. TimeCodeWAS allows for controls to be reused.
- Count cases and controls. For each health code, and for each time window: tally the counts into a 2×2 table. To be eligible in a time window, a case or control must have data coverage for at least 50% of that time window.
- Perform association tests. If all cells of the 2×2 table have N≥10, then a χ² test is performed, otherwise a Fisher's exact test is done. The corresponding p-value and confidence interval are reported below, along with the standard odds ratio when a χ² test is done, or Fisher's MLE odds ratio otherwise.
TimeCodeWAS currently uses the same default set of time windows for all the endpoints. Please reach out to us if you have suggestions for better time windows for some endpoints.
The default time windows are:
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
5
33
1.83
0.48
1.2
1.4
—
—
—
0
0
0
16
0.00
0.44
0.0
1.4
—
—
—
0
0
0
14
0.00
0.44
0.0
2.6
—
—
—
0
0
0
14
0.00
0.44
0.0
1.5
—
—
—
0
0
0
14
0.00
0.44
0.0
1.4
—
—
—
0
0
0
17
0.00
0.44
0.0
2.4
—
—
—
0
0
0
18
0.00
0.43
0.0
1.7
—
—
—
0
0
5
36
1.63
0.28
8.0
2.2
—
—
—
0
0
5
40
1.40
0.26
1.6
1.3
—
6.09
—
0
7
7
56
1.54
0.25
4.4
7.1
1.26
1.24
mmol/l
—
7
50
6
49
1.41
0.25
3.8
4.3
21.83
30.39
u/l
—
6
49
7
80
0.73
0.12
4.3
3.1
—
—
—
0
0
7
60
1.36
0.11
2.4
2.9
—
—
estimate
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
55.47
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.8
—
32.75
—
0
8
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
7.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_DIASTROFIC_DYSP – Diastrofic dysplasy
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).