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 |
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. |
52 |
4. Check minimum number of eventsNone |
52 |
5. Include endpointsNone |
52 |
6. Filter based on genotype QC (FinnGen only) |
51 |
Control definitions (FinnGen only)
Control exclude
E4_METABOLIA
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to Cystic fibrosis, other manifestations/unspecified based on the number of shared cases.
Broader endpoints:
- Cystic fibrosis
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- 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 | 334 | 163 | 167 |
Only index persons | 240 | 118 | 122 |
Unadjusted period prevalence (%) | |||
Whole population | 0.00 | 0.00 | 0.00 |
Only index persons | 0.00 | 0.00 | 0.00 |
Median age at first event (years) | |||
Whole population | 17.26 | 21.54 | 12.15 |
Only index persons | 16.03 | 20.33 | 11.87 |
-FinnGen-
Key figures
All | Female | Male | |
---|---|---|---|
Number of individuals | 51 | 26 | 25 |
Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
Median age at first event (years) | 8.16 | 11.81 | 4.37 |
-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: E4_CYSTFIBRO_NAS – Cystic fibrosis, other manifestations/unspecified
GWS hits: -
Loading Relationships table