Congenital anomalies in children

PH30 / 60

Zylbersztejn A, Verfürden M, Hardelid P, Gilbert R, Wijlaars L.

Oct 6, 2021

Clinical-Coded Phenotype

  1. Overview

    Phenotype Type
    Disease or syndrome
    Sex
    Both
    Valid Event Date Range
    01/01/2003 - 31/12/2014
    Coding System
    ICD10 codes
    Data Sources
    Hospital Episode Statistics Admitted Patient Care
    Civil Registration - Deaths
    General Acute Inpatient and Day Case - Scottish Morbidity Record (SMR01)
    Scottish Birth Record (SBR)
    Collections
    Phenotype Library
    Tags
    No data
    Ontology
    No data

  2. Definition

    We compared prevalence, and risk of prognostic outcomes (hospital readmission and death) according to each code list in England and Scotland. Feudtner code list identified the least prevalent but most severe congenital anomalies. The EUROCAT code list identified the largest and least severely affected group.

    This code list was developed by the EUROCAT network to classify unstandardized text in congenital anomaly registries for surveillance in Europe;

    Details can be found here:

    EUROCAT Guide 1.4 and Reference Documents (Last update version 28/12/2018). 2013. Available from: https://eu-rd-platform.jrc.ec.europa.eu/sites/default/files/Full_Guide_1_4_version_28_DEC2018.pdf

    EUROCAT website: https://eu-rd-platform.jrc.ec.europa.eu/eurocat

    This code list was developed to identify children with chronic conditions (including congenital anomalies) admitted to hospitals in England. We used a subgroup of Hardelid codes from Chapter 17 of ICD-10 (“Congenital malformations, deformations and chromosomal abnormalities”, that is all codes starting with “Q”) to indicate congenital anomalies.

    Details can be found here:

    Hardelid P, Dattani N, Gilbert R. Estimating the prevalence of chronic conditions in children who die in England, Scotland and Wales: a data linkage cohort study. BMJ Open. 2014 Jan;4(8):e005331. doi: http://dx.doi.org/10.1136/bmjopen-2014-005331

    Hardelid P, Dattani N, Davey J, Pribramska I, Gilbert R. Overview of child deaths in the four UK countries. London; 2013. Available from: https://www.hqip.org.uk/resource/overview-of-child-deaths-in-the-four-uk-countries/#.Xc5x1fn7Q2w(accessed 15 November 2019)

    This code list was developed to indicate children with complex chronic conditions (including congenital anomalies) admitted to hospitals in the United States. Initially it was created using ICD version 9 and it was later updated to ICD-10. Again, we only used a subgroup of Feudtner codes from Chapter 17 of ICD-10.

    Details can be found here:

    Feudtner C, Feinstein JA, Zhong W, Hall M, Dai D. Pediatric complex chronic conditions classification system version 2: Updated for ICD-10 and complex medical technology dependence and transplantation. BMC Pediatrics 2014;14 doi: http://dx.doi.org/10.1186/1471-2431-14-199

    additional resources: https://feudtnerlab.research.chop.edu/ccc_version_2.php (accessed 15 November 2019)

  3. Implementation

    Phenoflow ID

    Please see the PhenoFLOW website here for more information on workflow-based Phenotypes.

    PhenoFLOW Reference: https://kclhi.org/phenoflow/workflows/github.com/phenoflow/Congenital-anomalies-in-children---502ad5e0-1703-11ef-9de4-4d4ea830ad16/blob/read-potential-cases-fhir/Congenital-anomalies-in-children.cwl

    Implementation

    No data

  4. Clinical Codelist

  5. Publication

    Related publications

    Citation Example

    Zylbersztejn A, Verfürden M, Hardelid P, Gilbert R, Wijlaars L.. PH30 / 60 - Congenital anomalies in children. Phenotype Library [Online]. 06 October 2021. Available from: http://phenotypes.healthdatagateway.org/phenotypes/PH30/version/60/detail/. [Accessed 22 February 2026]

  6. API

    To Export Phenotype Details:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH30/version/60/detail/?format=json
    R Package

    # Download here

    library(ConceptLibraryClient)


    # Connect to API

    client = ConceptLibraryClient::Connection$new(public=TRUE)


    # Get details of Phenotype

    phenotype_details = client$phenotypes$get_detail(
     'PH30',
     version_id=60
    )

    Py Package

    # Download here

    from pyconceptlibraryclient import Client


    # Connect to API

    client = Client(public=True)


    # Get details of Phenotype

    phenotype_detail = client.phenotypes.get_detail(
     'PH30',
     version_id=60
    )

    To Export Phenotype Code List:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH30/version/60/export/codes/?format=json
    R Package

    # Download here

    library(ConceptLibraryClient)


    # Connect to API

    client = ConceptLibraryClient::Connection$new(public=TRUE)


    # Get codelist of Phenotype

    phenotype_codelist = client$phenotypes$get_codelist(
     'PH30',
     version_id=60
    )

    Py Package

    # Download here

    from pyconceptlibraryclient import Client


    # Connect to API

    client = Client(public=True)


    # Get codelist of Phenotype

    phenotype_codelist = client.phenotypes.get_codelist(
     'PH30',
     version_id=60
    )

  7. Version History

    Version IDNameOwnerPublish date
    Congenital anomalies in children ieuan.scanlon2021-10-06 16:00