No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
540 |
4. Check minimum number of eventsNone |
540 |
5. Include endpointsNone |
540 |
6. Filter based on genotype QC (FinnGen only) |
540 |
Control definitions (FinnGen only)
- Control exclude
- H7_CHOROIDRETINA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- H35
- Name in latin
- Dystrophia retinae hereditaria
Similar endpoints
↥List of similar endpoints to
Hereditary retinal dystrophy
based on the number of shared cases.
Similar with more cases:
- Other retinal disorders
- Disorders of choroid and retina
- Diseases of the eye and adnexa
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
Key figures
All | Female | Male | |
---|---|---|---|
Number of individuals | |||
Whole population | 4684 | 2315 | 2334 |
Only index persons | 4245 | 2126 | 2119 |
Unadjusted period prevalence (%) | |||
Whole population | 0.07 | 0.07 | 0.07 |
Only index persons | 0.08 | 0.08 | 0.08 |
Median age at first event (years) | |||
Whole population | 47.51 | 50.32 | 44.83 |
Only index persons | 46.92 | 49.66 | 44.17 |
-FinnGen-
Key figures
All | Female | Male | |
---|---|---|---|
Number of individuals | 540 | 289 | 251 |
Unadjusted period prevalence (%) | 0.10 | 0.10 | 0.11 |
Median age at first event (years) | 48.16 | 47.86 | 48.50 |
-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
CodeWAS (R11)
↥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
- 488
- Matched controls
- 4880
LabWAS
↥Mortality – FinRegistry
↥Association
Association between endpoint H7_HEREDRETINADYST and mortality.
Females
Parameter | HR [95% CI] | p-value |
---|---|---|
H7_HEREDRETINADYST | 1.142 [0.98, 1.33] | 0.085 |
Birth year | 0.991 [0.98, 1.0] | 0.052 |
During the follow-up period (1.1.1998 — 31.12.2019), 357 out of 1932 females with H7_HEREDRETINADYST died.
Males
Parameter | HR [95% CI] | p-value |
---|---|---|
H7_HEREDRETINADYST | 1.248 [1.07, 1.45] | 0.005 |
Birth year | 0.985 [0.97, 0.99] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 308 out of 1922 males with H7_HEREDRETINADYST died.
Mortality risk
Mortality risk for people of age
years, who have H7_HEREDRETINADYST.N-year risk | Females | Males |
---|---|---|
1 | 0.082% | 0.255% |
5 | 0.593% | 1.276% |
10 | 1.471% | 3.37% |
15 | 2.919% | 6.343% |
20 | 5.228% | 10.549% |
Relationships between endpoints
↥Index endpoint: H7_HEREDRETINADYST – Hereditary retinal dystrophy
GWS hits: 13