No definition available.
Congenital malformations of eye, ear, face and neck
EFO MESH Endpoint Browser PheWeb
Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
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. |
2229 |
4. Check minimum number of eventsNone |
2229 |
5. Include endpoints |
2229 |
6. Filter based on genotype QC (FinnGen only) |
2121 |
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 congenitae oculorum, aurium, faciei et colli
Similar endpoints
↥List of similar endpoints to
Congenital malformations of eye, ear, face and neck
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 | 42386 | 21671 | 20654 |
| Only index persons | 33417 | 17407 | 16010 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.60 | 0.62 | 0.58 |
| Only index persons | 0.63 | 0.64 | 0.61 |
| Median age at first event (years) | |||
| Whole population | 6.75 | 7.53 | 5.86 |
| Only index persons | 11.62 | 13.48 | 9.60 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 2121 | 1332 | 789 |
| Unadjusted period prevalence (%) | 0.52 | 0.58 | 0.43 |
| Median age at first event (years) | 32.24 | 28.83 | 37.99 |
-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_EYE_EAR_FACE_NECK – Congenital malformations of eye, ear, face and neck
GWS hits: -
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