No definition available.
Congenital malformations of the musculoskeletal system, not elsewhere classified
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MALFO_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
464 |
4. Check minimum number of eventsNone |
464 |
5. Include endpointsNone |
464 |
6. Filter based on genotype QC (FinnGen only) |
450 |
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
Malformationes congenitae systematis musculosceletalis non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Congenital malformations of the musculoskeletal system, not elsewhere classified
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:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3921 | 2562 | 1350 |
| Only index persons | 3291 | 2268 | 1023 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.06 | 0.07 | 0.04 |
| Only index persons | 0.07 | 0.08 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 22.80 | 30.56 | 8.01 |
| Only index persons | 27.31 | 33.04 | 14.61 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 450 | 380 | 70 |
| Unadjusted period prevalence (%) | 0.13 | 0.15 | 0.04 |
| Median age at first event (years) | 38.34 | 38.15 | 39.40 |
-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
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MALFO_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED | 2.061 [1.59, 2.68] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.094 |
During the follow-up period (1.1.1998 — 31.12.2019), 93 out of 2142 females with Q17_CONGEN_MALFO_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED | 2.024 [1.48, 2.77] | < 0.001 |
| Birth year | 0.991 [0.98, 1.0] | 0.045 |
During the follow-up period (1.1.1998 — 31.12.2019), 73 out of 1126 males with Q17_CONGEN_MALFO_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.212% | 0.457% |
| 5 | 1.159% | 2.853% |
| 10 | 2.828% | 6.949% |
| 15 | 5.402% | 12.6% |
| 20 | 9.606% | 20.54% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED – Congenital malformations of the musculoskeletal system, not elsewhere classified
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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