No definition available.
Endpoint definition
↥
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. |
111 |
4. Check minimum number of eventsNone |
111 |
5. Include endpointsNone |
111 |
6. Filter based on genotype QC (FinnGen only) |
111 |
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
- Ichthyosis congenita
Similar endpoints
↥List of similar endpoints to
Congenital ichthyosis
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1177 | 430 | 744 |
| Only index persons | 1017 | 379 | 638 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 19.16 | 24.30 | 16.03 |
| Only index persons | 20.43 | 25.76 | 17.26 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 111 | 56 | 55 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 35.28 | 38.68 | 31.82 |
-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
No data
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
- 99
- Matched controls
- 987
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q80.0
ICD-10 Finland
Ichthyosis vulgaris
+∞
42.8
38
*
Q80.9
ICD-10 Finland
Congenital ichthyosis, unspecified
+∞
39.2
35
*
D02AE01
ATC
carbamide; topical
20.4
29.1
46
40
Q80.8
ICD-10 Finland
Other congenital ichthyosis
+∞
26.2
24
*
E0000UV
ATC
NA
8.4
20.5
76
279
Q80.1
ICD-10 Finland
X-linked ichthyosis
+∞
19.4
18
*
E000006
ATC
NA
16.1
18.7
31
27
Q80.2
ICD-10 Finland
Lamellar ichthyosis
+∞
18.3
17
*
E000001
ATC
NA
6.3
15.5
52
147
75720
ICD-8 Finland
Congenital anomalies of skin, hair and nails, Iethyosis congenita
+∞
12.8
12
*
E000003
ATC
NA
12.1
12.6
23
24
D02AX
ATC
Other emollients and protectives
20.2
11.7
17
10
E000002
ATC
NA
6.0
10.7
32
73
D05BB02
ATC
acitretin; oral
19.3
10.2
15
9
134
Kela drug reimbursment
General erythroderma
61.1
9.9
11
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
6.1
8.6
24
49
G80.2
ICD-10 Finland
Spastic hemiplegic cerebral palsy
+∞
8.4
8
*
Q80.3
ICD-10 Finland
Congenital bullous ichthyosiform erythroderma
+∞
8.4
8
*
E000007
ATC
NA
8.4
7.5
16
22
D07AB08
ATC
desonide; topical
5.2
7.4
23
54
G80.1
ICD-10 Finland
Spastic diplegic cerebral palsy
74.4
6.5
7
*
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_ICHTHYOSIS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_ICHTHYOSIS | 2.725 [1.83, 4.05] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.719 |
During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 389 females with Q17_CONGEN_ICHTHYOSIS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_ICHTHYOSIS | 2.096 [1.48, 2.97] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.009 |
During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 677 males with Q17_CONGEN_ICHTHYOSIS died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_ICHTHYOSIS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.288% | 0.393% |
| 5 | 1.607% | 2.023% |
| 10 | 3.991% | 5.884% |
| 15 | 8.222% | 11.596% |
| 20 | 14.303% | 19.161% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_ICHTHYOSIS – Congenital ichthyosis
GWS hits: 2
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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