[
  {
    "phenotype_id": "PH4209",
    "phenotype_version_id": 9427,
    "name": "Inflammatory bowel disease (IBD)",
    "definition": "A group of chronic inflammatory diseases of the gastrointestinal tract.\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": "2026-06-08T20:11:35.768980Z",
    "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": "2026-06-08T20:11:35.762901Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Inflammatory bowel disease (disorder)",
        "value": 62527
      }
    ],
    "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": 10302,
        "concept_version_id": 17787,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4209",
        "phenotype_version_id": 9427,
        "phenotype_name": "Inflammatory bowel disease (IBD)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1462",
            "description": "crohns disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "1463",
            "description": "ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10303,
        "concept_version_id": 17788,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4209",
        "phenotype_version_id": 9427,
        "phenotype_name": "Inflammatory bowel disease (IBD)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K50",
            "description": "Crohn's disease [regional enteritis]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K51",
            "description": "Ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10304,
        "concept_version_id": 17789,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4209",
        "phenotype_version_id": 9427,
        "phenotype_name": "Inflammatory bowel disease (IBD)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K50",
            "description": "Crohn's disease [regional enteritis]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K51",
            "description": "Ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10305,
        "concept_version_id": 17790,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4209",
        "phenotype_version_id": 9427,
        "phenotype_name": "Inflammatory bowel disease (IBD)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K50",
            "description": "Crohn's disease [regional enteritis]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K51",
            "description": "Ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10306,
        "concept_version_id": 17791,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4209",
        "phenotype_version_id": 9427,
        "phenotype_name": "Inflammatory bowel disease (IBD)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "K50",
            "description": "Crohn's disease [regional enteritis]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K51",
            "description": "Ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10307,
        "concept_version_id": 17792,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4209",
        "phenotype_version_id": 9427,
        "phenotype_name": "Inflammatory bowel disease (IBD)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "14C4.11",
            "description": "H/O: ulcerative colitis",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "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": "J41..00",
            "description": "Idiopathic proctocolitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J410.00",
            "description": "Ulcerative proctocolitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J410000",
            "description": "Ulcerative ileocolitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J410100",
            "description": "Ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J410200",
            "description": "Ulcerative rectosigmoiditis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J410300",
            "description": "Ulcerative proctitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J410400",
            "description": "Exacerbation of ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J410z00",
            "description": "Ulcerative proctocolitis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J411.00",
            "description": "Ulcerative (chronic) enterocolitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J41..11",
            "description": "Mucous colitis and/or proctitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J41..12",
            "description": "Ulcerative colitis and/or proctitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J412.00",
            "description": "Ulcerative (chronic) ileocolitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J413.00",
            "description": "Ulcerative pancolitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J41y.00",
            "description": "Other idiopathic proctocolitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J41yz00",
            "description": "Other idiopathic proctocolitis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "J41z.00",
            "description": "Idiopathic proctocolitis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Jyu4000",
            "description": "[X]Other Crohn's disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Jyu4100",
            "description": "[X]Other ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N031000",
            "description": "Arthropathy in ulcerative colitis",
            "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": "N045400",
            "description": "Juvenile arthritis in ulcerative colitis",
            "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": "XaK6E",
            "description": "Exacerbation of ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaYzX",
            "description": "Ulcerative pancolitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0af",
            "description": "Crohn's disease of the large bowel NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0ag",
            "description": "Ulcerative colitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0qC",
            "description": "H/O: colitis",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "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/m672-f179",
    "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": 9427,
        "version_name": "Inflammatory bowel disease (IBD)",
        "version_date": "2026-06-08T20:11:35.779164Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]