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Cystic Fibrosis

Eleanor L Axson, Jennifer K Quint

Type
Disease or Syndrome
ID
PH14
Version ID
28
Valid event data range
01/01/2001 - 31/12/2019
Sex
Female, Male
Agreement Date
2020-06-03
Coding system
Read codes v2 ICD10 codes UKBioBank codes ICD11 codes SNOMED CT codes
Tags /Collections
BREATHE Phenotype Library

Definition

Implementation


Publications

Clinical Code List

Rows: 17
Code Description SNOMED CT Description ID SNOMED CT Concept ID
66k..00 Cystic fibrosis monitoring 1148201000000111 515611000000104
66k0.00 Cystic fibrosis annual review 1148241000000114 515631000000107
9No7.00 Seen in cystic fibrosis clinic 2974778015 698529000
C10N100 Cystic fibrosis related diabetes mellitus 2674608014 426705001
C370.00 Cystic fibrosis 293528019 190905008
C370000 Cystic fibrosis with no meconium ileus 1495466012 81423003
C370100 Cystic fibrosis with meconium ileus 14759013 86092005
C370111 Meconium ileus in cystic fibrosis 1495490013 86092005
C370200 Cystic fibrosis with pulmonary manifestations 143537016 86555001
C370300 Cystic fibrosis with intestinal manifestations 293537019 190909002
C370400 Arthropathy in cystic fibrosis 1174311000000111 526071000000104
C370500 Cystic fibrosis with distal intestinal obstruction syndrome 1174361000000113 526091000000100
C370700 Liver disease due to cystic fibrosis 2675247013 427022004
C370800 Cystic fibrosis related cirrhosis 1736361000000112 776981000000103
C370900 Exacerbation of cystic fibrosis 2222561000000111 859041000000103
C370y00 Cystic fibrosis with combined manifestations 293528019 190905008
C370z00 Cystic fibrosis NOS 293528019 190905008
Rows: 46
Code Description Description Read v2 Code
1708961000006108 Cystic fibrosis monitoring
1708971000006101 Cystic fibrosis annual review
1708981000006103 Annual cystic fibrosis blood test
1709341000006101 Liver disease due to cystic fibrosis
1760711000006105 Other cystic fibrosis gene mutation
1760721000006102 Cystic fibrosis gene mutation 1
1760731000006104 Cystic fibrosis gene mutation 2
1763641000006109 Cirrhosis of liver due to cystic fibrosis
1763651000006106 Pancreatic sufficient cystic fibrosis
1834221000006107 Cystic fibrosis gene mutation 1 - unknown
1834231000006105 Cystic fibrosis gene mutation 2 - unknown
1834241000006100 Age at diagnosis of cystic fibrosis - months
1834251000006103 Age at diagnosis of cystic fibrosis - years
1834261000006101 Cystic fibrosis complications at birth
1834271000006108 Cystic fibrosis diagnsoed following neonatal screening
1838061000006100 Cystic fibrosis diagnsoed following neonatal screening
1854661000006104 Date of cystic fibrosis diagnosis
1854691000006107 Results annual cystic fibrosis assessment discussed with family
1854771000006101 Cystic fibrosis manifested by failure to thrive
1854781000006103 Cystic fibrosis manifested by rectal prolapse
1854791000006100 Cystic fibrosis with liver manifestations
1854801000006104 Cystic fibrosis manifested by panreatitis
1854811000006101 Cystic fibrosis manifested by acute/persistent respriatory symp.
1854831000006107 Cystic fibrosis manifested by bronchiectasis
1854841000006102 Cystic fibrosis manifested by electrolyte imbalance
1854851000006100 Cystic fibrosis manifested by male infertility
1854861000006103 Cystic fibrosis manifested by malnutrition
1854871000006105 Cystic fibrosis manifested by meconium ileus
1854881000006108 Cystic fibrosis manifested by intestinal obstruction
1854901000006105 Cystic fibrosis manifested by malabsorption
1854911000006108 Cystic fibrosis manifested by nasal polyp/sinus disease
1855391000006100 Cystic fibrosis gene mutation - cDNA (protein name)(legacy name)
190905008 Cystic fibrosis C370.00
190909002 Cystic fibrosis with intestinal manifestations C370300
426705001 Cystic fibrosis related diabetes mellitus C10N100
427022004 Liver disease due to cystic fibrosis C370700
515611000000104 Cystic fibrosis monitoring 66k..00
515631000000107 Cystic fibrosis annual review 66k0.00
526071000000104 Arthropathy in cystic fibrosis C370400
526091000000100 Cystic fibrosis with distal intestinal obstruction syndrome C370500
698529000 Seen in cystic fibrosis clinic 9No7.00
776981000000103 Cystic fibrosis related cirrhosis C370800
81423003 Cystic fibrosis with no meconium ileus C370000
859041000000103 Exacerbation of cystic fibrosis C370900
86092005 Cystic fibrosis with meconium ileus C370100
86555001 Cystic fibrosis with pulmonary manifestations C370200
Rows: 4
Code Description
130822 Date E84 first reported (cystic fibrosis)
130823 Source of report of E84 (cystic fibrosis)
22131 Doctor diagnosed cystic fibrosis
22151 Age cystic fibrosis diagnosed by doctor
Rows: 1
Code Description
E84 Cystic fibrosis
Rows: 1
Code Description
E84 Cystic fibrosis
Rows: 1
Code Description
CA25 Cystic fibrosis

API

To Export Phenotype Details:

Format API
XML site_root/api/v1/public/phenotypes/PH14/version/28/detail/?format=xml
JSON site_root/api/v1/public/phenotypes/PH14/version/28/detail/?format=json
R Package

# Download here

library(ConceptLibraryClient)


# Connect to API

client = connect_to_API(public=TRUE)


# Get details of phenotype

details = get_phenotype_detail_by_version('PH14', '28', api_client=client)

To Export Phenotype Code List:

Format API
XML site_root/api/v1/public/phenotypes/PH14/version/28/export/codes/?format=xml
JSON site_root/api/v1/public/phenotypes/PH14/version/28/export/codes/?format=json
CSV site_root/phenotypes/PH14/version/28/export/codes/
R Package

# Download here

library(ConceptLibraryClient)


# Connect to API

client = connect_to_API(public=TRUE)


# Get codelists of phenotype

codelists = get_phenotype_code_list('PH14', '28', api_client=client)

Version History

Version
ID
Name Owner Publish date
28 Cystic Fibrosis ieuan.scanlon 2021-10-06 currently shown

Export - export all codes into a csv file/JSON/XML for the current phenotype version.

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