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 |
429209 |
1. Apply sex-specific ruleNone |
429209 |
2. Check conditionsNone |
429209 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
3013 |
4. Check minimum number of eventsNone |
3013 |
5. Include endpoints
|
3013 |
6. Filter based on genotype QC (FinnGen only) |
2877 |
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.
Broader endpoints:
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Narrower endpoints:
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 | 2877 | 1923 | 954 |
| Unadjusted period prevalence (%) | 0.73 | 0.84 | 0.52 |
| Median age at first event (years) | 29.70 | 32.75 | 23.55 |
-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
↥Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM – Congenital malformations and deformations of the musculoskeletal system
GWS hits: 1
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