[
  {
    "phenotype_id": "PH4086",
    "phenotype_version_id": 9304,
    "name": "Abdominal aortic aneurysm",
    "definition": "An abdominal aortic aneurysm (AAA) is a bulge or swelling in the aorta, the main blood vessel that runs from the heart down through the chest and stomach.\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": "2026-06-08T20:05:05.594090Z",
    "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": "2026-06-08T20:05:05.587915Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Abdominal aortic aneurysm (disorder)",
        "value": 612657
      }
    ],
    "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": 9522,
        "concept_version_id": 17007,
        "concept_name": "Operation code",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4086",
        "phenotype_version_id": 9304,
        "phenotype_name": "Abdominal aortic aneurysm",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1104",
            "description": "aortic aneurysm/repair or stent",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9523,
        "concept_version_id": 17008,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4086",
        "phenotype_version_id": 9304,
        "phenotype_name": "Abdominal aortic aneurysm",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I71.4",
            "description": "Abdominal aortic aneurysm, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I71.6",
            "description": "Thoracoabdominal aortic aneurysm, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I71.9",
            "description": "Aortic aneurysm of unspecified site, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9524,
        "concept_version_id": 17009,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4086",
        "phenotype_version_id": 9304,
        "phenotype_name": "Abdominal aortic aneurysm",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I71.4",
            "description": "Abdominal aortic aneurysm, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I71.6",
            "description": "Thoracoabdominal aortic aneurysm, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I71.9",
            "description": "Aortic aneurysm of unspecified site, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9525,
        "concept_version_id": 17010,
        "concept_name": "Operative procedures - main OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4086",
        "phenotype_version_id": 9304,
        "phenotype_name": "Abdominal aortic aneurysm",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L18",
            "description": "Emergency replacement of aneurysmal segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L19",
            "description": "Other replacement of aneurysmal segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L20",
            "description": "Other emergency bypass of segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L209",
            "description": "Unspecified other emergency bypass of segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L254",
            "description": "Operations on aneurysm of aorta NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L27",
            "description": "Transluminal insertion of stent graft for aneurysmal segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L28",
            "description": "Transluminal operations on aneurysmal segment of aorta",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9526,
        "concept_version_id": 17011,
        "concept_name": "Operative procedures - secondary OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4086",
        "phenotype_version_id": 9304,
        "phenotype_name": "Abdominal aortic aneurysm",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L18",
            "description": "Emergency replacement of aneurysmal segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L19",
            "description": "Other replacement of aneurysmal segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L20",
            "description": "Other emergency bypass of segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L209",
            "description": "Unspecified other emergency bypass of segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L254",
            "description": "Operations on aneurysm of aorta NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L27",
            "description": "Transluminal insertion of stent graft for aneurysmal segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "L28",
            "description": "Transluminal operations on aneurysmal segment of aorta",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9527,
        "concept_version_id": 17012,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4086",
        "phenotype_version_id": 9304,
        "phenotype_name": "Abdominal aortic aneurysm",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I71.4",
            "description": "Abdominal aortic aneurysm, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I71.6",
            "description": "Thoracoabdominal aortic aneurysm, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I71.9",
            "description": "Aortic aneurysm of unspecified site, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9528,
        "concept_version_id": 17013,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4086",
        "phenotype_version_id": 9304,
        "phenotype_name": "Abdominal aortic aneurysm",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I71.4",
            "description": "Abdominal aortic aneurysm, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I71.6",
            "description": "Thoracoabdominal aortic aneurysm, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I71.9",
            "description": "Aortic aneurysm of unspecified site, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9529,
        "concept_version_id": 17014,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4086",
        "phenotype_version_id": 9304,
        "phenotype_name": "Abdominal aortic aneurysm",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "14AE.00",
            "description": "H/O: aortic aneurysm",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "7A11000",
            "description": "Emerg repl aneurysm bifurc aorta by anast aorta to fem art",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7A11200",
            "description": "Emerg repl aneurysm bifurc aorta by anast aorta to iliac a",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7A11211",
            "description": "Y graft of abdominal Aortic aneurysm (emergency)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7A13.00",
            "description": "Emergency replacement of aneurysmal segment of aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7A13.11",
            "description": "Emergency repair of aortic aneurysm",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7A13300",
            "description": "Emerg replace aneurysm infrarenal aorta by anast aorta/aorta",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7A13400",
            "description": "Emerg replace aneurysm abdom aorta by anast aorta/aorta NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7A13411",
            "description": "Tube graft abdominal Aortic aneurysm (emergency)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7A13y00",
            "description": "Emergency replacement of aneurysmal segment of aorta OS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7A13z00",
            "description": "Emergency replacement of aneurysmal segment of aorta NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G714.00",
            "description": "Abdominal aortic aneurysm without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G714.11",
            "description": "AAA - Abdominal aortic aneurysm without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G716.00",
            "description": "Aortic aneurysm without mention of rupture NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G716000",
            "description": "Thoracoabdominal aortic aneurysm, without mention of rupture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0Ey",
            "description": "Emergency replacement of aneurysmal bifurcation of aorta by anastomosis of aorta to iliac artery",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0F2",
            "description": "Emergency replacement of aneurysmal segment of abdominal aorta by anastomosis of aorta to aorta NEC",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/fs6a-d007",
    "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": 9304,
        "version_name": "Abdominal aortic aneurysm",
        "version_date": "2026-06-08T20:05:05.621634Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]