Cystic fibrosis with intestinal manifestations

E4_CYSTFIBRO_INT

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.']

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E84.1
  • Cause of death: ICD-10 E84.1
  • KELA reimbursements: KELA codes ANY
  • KELA reimbursements: ICD-10 E84

3 out of 7 registries used, show all original rules.

53

4. Check minimum number of events

None

53

5. Include endpoints

None

53

6. Filter based on genotype QC (FinnGen only)

53

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E84
Name in latin
Fibrosis cystica cum manifestationibus intestinalibus

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 304 141 162
Only index persons 241 119 122
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 51.09 55.07 47.45
Only index persons 49.30 51.07 47.57

-FinnGen-

Key figures

All Female Male
Number of individuals 53 30 23
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 19.07 18.11 20.33

-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

No data

-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.

No data available

Mortality – FinRegistry

Association

Association between endpoint E4_CYSTFIBRO_INT and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
E4_CYSTFIBRO_INT 5.01 [2.97, 8.45] < 0.001
Birth year 0.985 [0.98, 0.99] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 60 out of 145 males with E4_CYSTFIBRO_INT died.

Mortality risk

Mortality risk for people of age

years, who have E4_CYSTFIBRO_INT.

N-year risk Females Males
1 No data 0.832%
5 No data 5.121%
10 No data 13.024%
15 No data 23.573%
20 No data 36.963%

Relationships between endpoints

Index endpoint: E4_CYSTFIBRO_INT – Cystic fibrosis with intestinal manifestations

GWS hits: -

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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