No definition available.
Congenital malformations and deformations of the musculoskeletal system
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
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. |
3393 |
4. Check minimum number of eventsNone |
3393 |
5. Include endpoints
|
3393 |
6. Filter based on genotype QC (FinnGen only) |
3233 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
2
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q
Name in latin
Malformationes et deformationes congenitae systematis musculosceletalis
Similar endpoints
↥List of similar endpoints to
Congenital malformations and deformations of the musculoskeletal system
based on the number of shared cases.
Similar with more cases:
- 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 | 59624 | 31155 | 28397 |
| Only index persons | 44933 | 23495 | 21438 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.84 | 0.89 | 0.79 |
| Only index persons | 0.84 | 0.86 | 0.82 |
| Median age at first event (years) | |||
| Whole population | 4.18 | 3.46 | 4.90 |
| Only index persons | 11.50 | 11.83 | 11.13 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 3233 | 2170 | 1063 |
| Unadjusted period prevalence (%) | 0.75 | 0.85 | 0.53 |
| Median age at first event (years) | 29.55 | 32.59 | 23.34 |
-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
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM | 1.376 [1.15, 1.65] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.758 |
During the follow-up period (1.1.1998 — 31.12.2019), 789 out of 27845 females with Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM | 1.376 [1.19, 1.59] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.012 |
During the follow-up period (1.1.1998 — 31.12.2019), 682 out of 25032 males with Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.156% | 0.289% |
| 5 | 0.784% | 1.601% |
| 10 | 2.077% | 4.07% |
| 15 | 4.282% | 7.702% |
| 20 | 7.592% | 12.864% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM – Congenital malformations and deformations of the musculoskeletal system
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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