This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Congenital malformation of optic disc
Q17_CONGEN_MALFO_OPTI
No definition available.
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. |
34 |
4. Check minimum number of eventsNone |
34 |
5. Include endpointsNone |
34 |
6. Filter based on genotype QC (FinnGen only) |
33 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF6v3
Similar endpoints
↥List of similar endpoints to
Congenital malformation of optic disc
based on the number of shared cases.
Broader endpoints:
- Congenital malformations of posterior segment of eye
- Congenital malformations of eye, ear, face and neck
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Narrower endpoints:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 460 | 222 | 236 |
| Only index persons | 347 | 179 | 168 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 8.73 | 9.75 | 7.53 |
| Only index persons | 13.78 | 15.17 | 12.30 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 33 | 19 | 14 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 24.09 | 34.53 | 9.91 |
-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
Not a core endpoint, no data to show.
Mortality – FinRegistry
↥Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_OPTI – Congenital malformation of optic disc
GWS hits: -
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