No definition available.
Other specified congenital malformation syndromes affecting multiple systems
EFO MESH Endpoint Browser PheWeb
Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS
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. |
510 |
4. Check minimum number of eventsNone |
510 |
5. Include endpointsNone |
510 |
6. Filter based on genotype QC (FinnGen only) |
480 |
Control definitions (FinnGen only)
Control exclude
Q17_OTHER_CONGEN_MALFO
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q8
Name in latin
Alia syndromata malformationum congenitarum specificata, systemata multa afficientia
Similar endpoints
↥List of similar endpoints to
Other specified congenital malformation syndromes affecting multiple systems
based on the number of shared cases.
Broader endpoints:
- Exclusion endpoint for clefts
- Clefts and syndromes for tooth agenesis exclusion, including avohilmo
- Other congenital malformations
- 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 | 5896 | 2910 | 2971 |
| Only index persons | 4570 | 2275 | 2295 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.08 | 0.08 | 0.08 |
| Only index persons | 0.09 | 0.08 | 0.09 |
| Median age at first event (years) | |||
| Whole population | 7.85 | 8.55 | 7.03 |
| Only index persons | 11.81 | 12.91 | 10.72 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 480 | 261 | 219 |
| Unadjusted period prevalence (%) | 0.12 | 0.11 | 0.12 |
| Median age at first event (years) | 21.70 | 21.39 | 22.07 |
-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_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS – Other specified congenital malformation syndromes affecting multiple systems
GWS hits: 2
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