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. |
92 |
4. Check minimum number of eventsNone |
92 |
5. Include endpointsNone |
92 |
6. Filter based on genotype QC (FinnGen only) |
92 |
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 superioris
Similar endpoints
↥List of similar endpoints to
Reduction defects of upper limb
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly
- 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 | 1190 | 518 | 671 |
| Only index persons | 956 | 441 | 515 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 5.82 | 7.97 | 4.12 |
| Only index persons | 9.08 | 11.27 | 7.20 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 92 | 50 | 42 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 22.43 | 19.08 | 26.42 |
-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
Q71.9
ICD-10 Finland
Reduction defect of upper limb, unspecified
+∞
20.7
19
*
Q71.88
ICD-10 Finland
Other reduction defects of upper limb(s)
+∞
18.4
17
*
Q71.81
ICD-10 Finland
Congenital reduction malformation of thumb
+∞
11.7
11
*
Q71.3
ICD-10 Finland
Congenital absence of hand and finger(s)
+∞
11.7
11
*
Q71.4
ICD-10 Finland
Longitudinal reduction defect of radius
+∞
9.5
9
*
Q71.2
ICD-10 Finland
Congenital absence of both forearm and hand
+∞
8.5
8
*
Q71.80
ICD-10 Finland
Congenital reduction malformation of finger (s)
+∞
8.5
8
*
ND2AA
NOMESCO Finland
Hand and fingers X-ray examination
8.5
8.3
18
26
Z2221
NOMESCO Finland
Medical doctor
3.9
7.6
39
153
XF400
NOMESCO Finland
ECG with 12 standard connections
4.5
7.4
29
88
NC2AA
NOMESCO Finland
Forearm X-ray examination
33.1
7.3
9
*
Z3229
NOMESCO Finland
Other healthcare associate professional
5.3
6.9
21
49
ZXD10
NOMESCO Finland
Scheduled procedure
3.4
6.7
46
219
Q71.0
ICD-10 Finland
Congenital complete absence of upper limb(s)
+∞
6.3
6
*
NDT20
NOMESCO Finland
Correction of complicated handanomaly
+∞
6.3
6
*
R4110
NOMESCO Finland
Physiotherapy
3.4
6.3
38
162
Mortality – FinRegistry
↥Association
Association between endpoint Q17_REDUCT_DEFECTS_UPPER_LIMB and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_REDUCT_DEFECTS_UPPER_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_UPPER_LIMB – Reduction defects of upper 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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