[
  {
    "phenotype_id": "PH4151",
    "phenotype_version_id": 9369,
    "name": "Crohn's disease",
    "definition": "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.\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": "2026-06-08T20:08:25.824055Z",
    "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": "2026-06-08T20:08:25.815213Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Crohn's disease of large bowel (disorder)",
        "value": 710016
      }
    ],
    "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
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 9942,
        "concept_version_id": 17427,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4151",
        "phenotype_version_id": 9369,
        "phenotype_name": "Crohn's disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1462",
            "description": "crohns disease",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9943,
        "concept_version_id": 17428,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4151",
        "phenotype_version_id": 9369,
        "phenotype_name": "Crohn's disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K50",
            "description": "Crohn's disease [regional enteritis]",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9944,
        "concept_version_id": 17429,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4151",
        "phenotype_version_id": 9369,
        "phenotype_name": "Crohn's disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K50",
            "description": "Crohn's disease [regional enteritis]",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9945,
        "concept_version_id": 17430,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4151",
        "phenotype_version_id": 9369,
        "phenotype_name": "Crohn's disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K50",
            "description": "Crohn's disease [regional enteritis]",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9946,
        "concept_version_id": 17431,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4151",
        "phenotype_version_id": 9369,
        "phenotype_name": "Crohn's disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K50",
            "description": "Crohn's disease [regional enteritis]",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9947,
        "concept_version_id": 17432,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4151",
        "phenotype_version_id": 9369,
        "phenotype_name": "Crohn's disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "J08z900",
            "description": "Orofacial Crohn's disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J40..00",
            "description": "Regional enteritis - Crohn's disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J400.00",
            "description": "Regional enteritis of the small bowel",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J400000",
            "description": "Regional enteritis of the duodenum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J400100",
            "description": "Regional enteritis of the jejunum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J400200",
            "description": "Crohn's disease of the terminal ileum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J400300",
            "description": "Crohn's disease of the ileum unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J400400",
            "description": "Crohn's disease of the ileum NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J400500",
            "description": "Exacerbation of Crohn's disease of small intestine",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J400z00",
            "description": "Crohn's disease of the small bowel NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J401.00",
            "description": "Regional enteritis of the large bowel",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J401000",
            "description": "Regional enteritis of the colon",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J40..11",
            "description": "Crohn's disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J401100",
            "description": "Regional enteritis of the rectum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J40..12",
            "description": "Granulomatous enteritis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J401200",
            "description": "Exacerbation of Crohn's disease of large intestine",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J401z00",
            "description": "Crohn's disease of the large bowel NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J401z11",
            "description": "Crohn's colitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J402.00",
            "description": "Regional ileocolitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J40z.00",
            "description": "Regional enteritis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J40z.11",
            "description": "Crohn's disease NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Jyu4000",
            "description": "[X]Other Crohn's disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N031100",
            "description": "Arthropathy in Crohn's disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N045300",
            "description": "Juvenile arthritis in Crohn's disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaK6C",
            "description": "Exacerbation of Crohn's disease of small intestine",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaK6D",
            "description": "Exacerbation of Crohn's disease of large intestine",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0af",
            "description": "Crohn's disease of the large bowel NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZR3S.00",
            "description": "Crohn's disease activity index",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZR3S.11",
            "description": "CDAI - Crohn's disease activity index",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/45z8-qk85",
    "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": 9369,
        "version_name": "Crohn's disease",
        "version_date": "2026-06-08T20:08:25.835528Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]