Phenotype Library | phenotype: Cystic Fibrosis

Cystic Fibrosis

Eleanor L Axson, Jennifer K Quint

PH14

Version ID

Type

Disease or Syndrome

Data Sources

UK Biobank , CPRD Aurum , Death Registration data for CPRD Aurum , CPRD GOLD , Death Registration data for CPRD GOLD , HES Admitted Patient Care data for CPRD Aurum , HES Admitted Patient Care data for CPRD GOLD

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

Collections

BREATHE Phenotype Library

Definition

Implementation

PhenoFlow Implementation:

https://kclhi.org/phenoflow/phenotype/download/52

Publications

No data available

Clinical Code List

CSV

JSON

XML

Expand All / Collapse All

C745/2629 Cystic Fibrosis - Primary care - Read codes v2

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

C746/2631 Cystic Fibrosis - Primary care - SNOMED CT codes

Rows: 46

Code	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

C747/2633 Cystic Fibrosis - UK Biobank - UKBioBank codes

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

C748/2635 Cystic Fibrosis - Mortality - ICD10 codes

Rows: 1

Code	Description
E84	Cystic fibrosis

C749/2637 Cystic Fibrosis - Secondary care - Diagnoses - ICD10 codes

Rows: 1

Code	Description
E84	Cystic fibrosis

C750/2639 Cystic Fibrosis - Secondary care - Diagnoses - ICD11 codes

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

Cystic Fibrosis

Definition

Implementation

Publications

Clinical Code List Export Code List CSV JSON XML

C745/2629 Cystic Fibrosis - Primary care - Read codes v2

C746/2631 Cystic Fibrosis - Primary care - SNOMED CT codes

C747/2633 Cystic Fibrosis - UK Biobank - UKBioBank codes

C748/2635 Cystic Fibrosis - Mortality - ICD10 codes

C749/2637 Cystic Fibrosis - Secondary care - Diagnoses - ICD10 codes

C750/2639 Cystic Fibrosis - Secondary care - Diagnoses - ICD11 codes

API

Version History

Clinical Code List

CSV

JSON

XML