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 |
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. |
405 |
4. Check minimum number of eventsNone |
405 |
5. Include endpointsNone |
405 |
6. Filter based on genotype QC (FinnGen only) |
393 |
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.
Broader endpoints:
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- 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 | 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 | 393 | 335 | 58 |
| Unadjusted period prevalence (%) | 0.13 | 0.15 | 0.03 |
| Median age at first event (years) | 38.96 | 38.25 | 43.07 |
-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_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED – Congenital malformations of the musculoskeletal system, not elsewhere classified
GWS hits: 1
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