obsolete_cystic fibrosis: ['A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003', 'A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.']
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. |
68 |
4. Check minimum number of eventsNone |
68 |
5. Include endpoints |
87 |
6. Filter based on genotype QC (FinnGen only) |
87 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- E70-E90
- Name in latin
- Fibrosis cystica
Similar endpoints
↥List of similar endpoints to Cystic fibrosis based on the number of shared cases.
Similar with more cases:
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
Key figures
All | Female | Male | |
---|---|---|---|
Number of individuals | |||
Whole population | 672 | 324 | 341 |
Only index persons | 504 | 255 | 249 |
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 | 51.06 | 55.29 | 46.77 |
Only index persons | 51.08 | 55.07 | 46.99 |
-FinnGen-
Key figures
All | Female | Male | |
---|---|---|---|
Number of individuals | 87 | 49 | 38 |
Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
Median age at first event (years) | 35.27 | 33.91 | 37.03 |
-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
- 79
- Matched controls
- 790
LabWAS
↥Mortality – FinRegistry
↥Association
Association between endpoint E4_CYSTFIBRO and mortality.
Females
Parameter | HR [95% CI] | p-value |
---|---|---|
E4_CYSTFIBRO | 1.906 [1.37, 2.65] | < 0.001 |
Birth year | 0.991 [0.98, 1.0] | 0.052 |
During the follow-up period (1.1.1998 — 31.12.2019), 76 out of 217 females with E4_CYSTFIBRO died.
Males
Parameter | HR [95% CI] | p-value |
---|---|---|
E4_CYSTFIBRO | 3.247 [2.14, 4.92] | < 0.001 |
Birth year | 0.987 [0.98, 1.0] | 0.008 |
During the follow-up period (1.1.1998 — 31.12.2019), 97 out of 225 males with E4_CYSTFIBRO died.
Mortality risk
Mortality risk for people of age
years, who have E4_CYSTFIBRO.N-year risk | Females | Males |
---|---|---|
1 | 0.193% | 0.647% |
5 | 1.046% | 3.558% |
10 | 2.484% | 9.085% |
15 | 4.779% | 17.249% |
20 | 8.026% | 28.099% |
Relationships between endpoints
↥Index endpoint: E4_CYSTFIBRO – Cystic fibrosis
GWS hits: 3