No definition available.
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. |
94 |
4. Check minimum number of eventsNone |
94 |
5. Include endpointsNone |
94 |
6. Filter based on genotype QC (FinnGen only) |
94 |
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
- Defectus reductionales membri inferioris
Similar endpoints
↥List of similar endpoints to
Reduction defects of lower limb
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
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1123 | 543 | 577 |
| Only index persons | 1005 | 493 | 512 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 13.45 | 13.58 | 13.09 |
| Only index persons | 13.87 | 14.04 | 13.71 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 94 | 54 | 40 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 22.25 | 27.72 | 14.86 |
-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 (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
- 85
- Matched controls
- 851
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q72.88
ICD-10 Finland
Other reduction defects of lower himb(s)
+∞
50.0
43
*
Q72.9
ICD-10 Finland
Reduction defect of lower limb, unspecified
+∞
21.8
20
*
M21.7
ICD-10 Finland
Unequal limb length (acquired)
112.0
9.6
10
*
NFU20
NOMESCO Finland
Removal of internal fixation device from femur
49.7
7.9
9
*
Z3231
NOMESCO Finland
Registered nurse
3.5
6.3
36
149
TNX33
NOMESCO Finland
Custom moulded cast, unspecified region
11.3
6.2
11
11
Mortality – FinRegistry
↥Association
Association between endpoint Q17_REDUCT_DEFECTS_LOWER_LIMB and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_REDUCT_DEFECTS_LOWER_LIMB.| 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_REDUCT_DEFECTS_LOWER_LIMB – Reduction defects of lower limb
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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