No definition available.
Congenital malformations of eyelid, lacrimal apparatus and orbit
Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT_WIDE
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
3 out of 7 registries used, show all original rules. |
383 |
4. Check minimum number of eventsNone |
383 |
5. Include endpointsNone |
383 |
6. Filter based on genotype QC (FinnGen only) |
362 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF13
- Parent code in ICD-10
- Q1
- Name in latin
- Malformationes congenitae palpebrarum, apparatus lacrimalis et orbitae
Similar endpoints
↥List of similar endpoints to
Congenital malformations of eyelid, lacrimal apparatus and orbit
based on the number of shared cases.
Similar with more cases:
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 362 | 219 | 143 |
| Unadjusted period prevalence (%) | 0.07 | 0.08 | 0.07 |
| Median age at first event (years) | 3.73 | 2.68 | 5.33 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
CodeWAS
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 383
- Matched controls
- 3829
LabWAS
↥Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT_WIDE – Congenital malformations of eyelid, lacrimal apparatus and orbit
GWS hits: 1
This endpoint is excluded (different definition than used in FinnGen).