No definition available.
Other congenital musculoskeletal deformities
DOID EFO Endpoint Browser PheWeb
Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI
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. |
121 |
4. Check minimum number of eventsNone |
121 |
5. Include endpointsNone |
121 |
6. Filter based on genotype QC (FinnGen only) |
121 |
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 deformitates musculosceletales congenitae
Similar endpoints
↥List of similar endpoints to
Other congenital musculoskeletal deformities
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 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 | 2341 | 1201 | 1140 |
| Only index persons | 1848 | 977 | 871 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.03 | 0.04 | 0.03 |
| Median age at first event (years) | |||
| Whole population | - | 5.95 | 2.58 |
| Only index persons | 8.22 | 9.78 | 6.48 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 121 | 86 | 35 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 15.16 | 15.89 | 13.38 |
-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
- 112
- Matched controls
- 1119
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q68.8
ICD-10 Finland
Other specified congenital musculoskeletal deformities
+∞
41.2
37
*
Q68.1
ICD-10 Finland
Congenital deformity of hand
+∞
35.3
32
*
Q68.0
ICD-10 Finland
Congenital deformity of sternocleidomastoid muscle
+∞
24.9
23
*
Q68.2
ICD-10 Finland
Congenital deformity of knee
+∞
17.1
16
*
NAL22
NOMESCO Finland
Myotomy or tenotomy of spine or neck
+∞
8.4
8
*
ZXE10
NOMESCO Finland
More than one and less than three hours
3.2
7.0
44
189
Q74.3
ICD-10 Finland
Arthrogryposis multiplex congenita
+∞
6.3
6
*
Q74.88
ICD-10 Finland
Other specified congenital malformations of limb(s)
+∞
6.3
6
*
ZXD10
NOMESCO Finland
Scheduled procedure
2.9
6.2
48
229
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI.| 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_OTHER_CONGEN_MUSCULOS_DEFORMITI – Other congenital musculoskeletal deformities
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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