[
  {
    "phenotype_id": "PH4197",
    "phenotype_version_id": 9415,
    "name": "Diaphragmatic hernia",
    "definition": "Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM.\n\nUKB baseline self reported fields.\n",
    "implementation": "The earliest record across all sources is obtained.\n",
    "publications": [
      {
        "doi": "https://doi.org/10.1038/s41598-025-05838-9",
        "details": "Torralbo, Ana and Davitte, Jonathan M. and Croteau-Chonka, Damien C. and Ytsma, Cai R. and Tomlinson, Christopher and Fitzpatrick, Natalie and Chung, Sheng-Chia and Fatemifar, Ghazaleh and Cortes, Adrian S. and Richardson, Tom G. and Barclay, Matthew and Carrasco Zanini Sanchez, Julia and Finan, Chris and Hemingway, Harry and Hingorani, Aroon D. and Kuan Po Ai, Valerie and Langenberg, Claudia and Lyratzopoulos, Georgios and Lumbers, Tom and Pietzner, Maik and Shah, Anoop Dinesh and Thygesen, Johan Hilge and Zelenka, Natalie and Whittaker, John C. and Ehm, Margaret G. and Denaxas, Spiros, A Computational Framework for Defining and Validating Reproducible Phenotyping Algorithms of 313 Diseases in the UK Biobank.",
        "primary": true
      }
    ],
    "validation": "Phenotypes underwent a multi\\-layered validation approach that included a) evaluating data source concordance, b) age\\-sex incidence and baseline prevalence patterns, c) an external comparison to a representative and unselected UK EHR dataset, d) modifiable risk factor associations, and e) genetic correlations with external genome\\-wide association studies (GWAS). Results showed consistent disease distributions by age and sex, high ranked correlation with general population prevalence estimates, confirmed risk factor associations, and significant genetic correlations with external GWAS.\n",
    "citation_requirements": null,
    "created": "2026-06-08T20:10:59.612499Z",
    "author": "Torralbo, A; Davitte, J M; Croteau-Chonka, D C; Ytsma, C; Tomlinson, C; Fitzpatrick, N K; Chung, S C; Fatemifar, G; Cortes, A S; Richardson, T G; Barclay, M; Carrasco Zanini, J; Finan, C; Hemingway, H; Hingorani, A; Kuan, V; Langenberg, C; Lyratzopoulos, G; Lumbers, R T; Pietzner, M; Shah, A D; Thygesen, J H; Zelenka, N; Whittaker, J C; Ehm, M G; Denaxas, S",
    "collections": [
      {
        "name": "Phenotype Library",
        "value": 18
      },
      {
        "name": "UK Biobank",
        "value": 32
      }
    ],
    "tags": null,
    "organisation": null,
    "world_access": 1,
    "updated": "2026-06-08T20:10:59.607013Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Diaphragmatic hernia (disorder)",
        "value": 37709
      }
    ],
    "phenoflowid": null,
    "data_sources": [
      {
        "name": "UK Biobank",
        "value": 13,
        "uid": "6a9f93ad-2434-41d9-93bf-6e9d2eee04e5",
        "url": "https://healthdatagateway.org/en/dataset/700",
        "datasource_id": 700
      },
      {
        "name": "Patient Episode Dataset for Wales (PEDW)",
        "value": 40,
        "uid": "4c33a5d2-164c-41d7-9797-dc2b008cc852",
        "url": "https://healthdatagateway.org/en/dataset/318",
        "datasource_id": 318
      },
      {
        "name": "Scottish Cancer Registry (SMR06)",
        "value": 417,
        "uid": "ad36dc03-1856-44de-99b0-1af6f312d86b",
        "url": "https://healthdatagateway.org/en/dataset/79",
        "datasource_id": 79
      },
      {
        "name": "Cancer Registration Data",
        "value": 788,
        "uid": "6904a2ff-ab44-4dd6-b9ec-25d3cad29e43",
        "url": "https://healthdatagateway.org/en/dataset/880",
        "datasource_id": 880
      }
    ],
    "endorsements": null,
    "project_name": null,
    "coding_system": [
      {
        "name": "UKBioBank codes",
        "value": 12
      },
      {
        "name": "ICD10 codes",
        "value": 4
      },
      {
        "name": "Read codes v3",
        "value": 6
      },
      {
        "name": "OPCS4 codes",
        "value": 7
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 10231,
        "concept_version_id": 17716,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4197",
        "phenotype_version_id": 9415,
        "phenotype_name": "Diaphragmatic hernia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1474",
            "description": "hiatus hernia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10232,
        "concept_version_id": 17717,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4197",
        "phenotype_version_id": 9415,
        "phenotype_name": "Diaphragmatic hernia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K44",
            "description": "Diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10233,
        "concept_version_id": 17718,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4197",
        "phenotype_version_id": 9415,
        "phenotype_name": "Diaphragmatic hernia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K44",
            "description": "Diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10234,
        "concept_version_id": 17719,
        "concept_name": "Operative procedures - main OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4197",
        "phenotype_version_id": 9415,
        "phenotype_name": "Diaphragmatic hernia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G23",
            "description": "Repair of diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.1",
            "description": "Repair of oesophageal hiatus using thoracic approach",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.2",
            "description": "Repair of diaphragmatic hernia using thoracic approach NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.3",
            "description": "Repair of oesophageal hiatus using abdominal approach",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.4",
            "description": "Repair of diaphragmatic hernia using abdominal approach NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.8",
            "description": "Other specified repair of diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.9",
            "description": "Unspecified repair of diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10235,
        "concept_version_id": 17720,
        "concept_name": "Operative procedures - secondary OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4197",
        "phenotype_version_id": 9415,
        "phenotype_name": "Diaphragmatic hernia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G23",
            "description": "G23",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.1",
            "description": "G23.1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.2",
            "description": "G23.2",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.3",
            "description": "G23.3",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.4",
            "description": "G23.4",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.8",
            "description": "G23.8",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G23.9",
            "description": "G23.9",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10236,
        "concept_version_id": 17721,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4197",
        "phenotype_version_id": 9415,
        "phenotype_name": "Diaphragmatic hernia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K44",
            "description": "Diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10237,
        "concept_version_id": 17722,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4197",
        "phenotype_version_id": 9415,
        "phenotype_name": "Diaphragmatic hernia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K44",
            "description": "Diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10238,
        "concept_version_id": 17723,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4197",
        "phenotype_version_id": 9415,
        "phenotype_name": "Diaphragmatic hernia",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "760K.00",
            "description": "Repair of diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760K011",
            "description": "Allison repair of oesophageal hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760K012",
            "description": "Mason repair of oesophageal hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760K100",
            "description": "Repair of diaphragmatic hernia using thoracic approach NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760K.11",
            "description": "Repair of oesophageal hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760K.12",
            "description": "Repair of hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760K300",
            "description": "Repair of diaphragmatic hernia using abdominal approach NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760K400",
            "description": "Boerema repair of hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760K500",
            "description": "Laparoscopic repair of hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760Ky00",
            "description": "Other specified repair of diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760Kz00",
            "description": "Repair of diaphragmatic hernia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "760L312",
            "description": "Hill repair of hiatus hernia and gastropexy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J34..00",
            "description": "Diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J340.00",
            "description": "Diaphragmatic hernia with gangrene",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J341.00",
            "description": "Diaphragmatic hernia with obstruction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J34..11",
            "description": "Hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J34..12",
            "description": "Parasternal hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J34..13",
            "description": "Retrosternal hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J342.00",
            "description": "Diaphragmatic hernia - irreducible",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J343.00",
            "description": "Simple diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J344.00",
            "description": "Hiatus hernia with gangrene",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J345.00",
            "description": "Hiatus hernia with obstruction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J346.00",
            "description": "Hiatus hernia - irreducible",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J347.00",
            "description": "Simple hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J348.00",
            "description": "Sliding hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J34y.00",
            "description": "Unspecified diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X30BB",
            "description": "Sliding hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaC18",
            "description": "Hiatus hernia - irreducible",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaC19",
            "description": "Hiatus hernia with gangrene",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaC1A",
            "description": "Hiatus hernia with obstruction",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaC1B",
            "description": "Simple hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaJlJ",
            "description": "Laparoscopic repair of hiatus hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0ab",
            "description": "Diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0ac",
            "description": "Unspecified diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0Cb",
            "description": "Antireflux gastropexy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0CW",
            "description": "Repair of diaphragmatic hernia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0CX",
            "description": "Repair of oesophageal hiatus using thoracic approach",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/sjya-6n61",
    "is_deleted": false,
    "publish_status": 2,
    "owner": "ieuan.scanlon",
    "template": {
      "id": 2,
      "name": "BHF Data Science Centre Phenotype",
      "description": "BHF Data Science Centre Phenotype definitions that describe a list of clinical codes, algorithms using clinical codes, or set of clinical trials. Visit the BHF Data Science Centre website to learn more: https://bhfdatasciencecentre.org",
      "version_id": 1
    },
    "versions": [
      {
        "version_id": 9415,
        "version_name": "Diaphragmatic hernia",
        "version_date": "2026-06-08T20:10:59.622610Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]