[
  {
    "phenotype_id": "PH4359",
    "phenotype_version_id": 9577,
    "name": "Lupus erythematosus (local and systemic)",
    "definition": "A long\\-term condition causing inflammation to the joints, skin and other organs.\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": "2026-06-08T20:19:43.506774Z",
    "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": "2026-06-08T20:19:43.501756Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Lupus erythematosus (disorder)",
        "value": 175916
      }
    ],
    "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": 11208,
        "concept_version_id": 18693,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4359",
        "phenotype_version_id": 9577,
        "phenotype_name": "Lupus erythematosus (local and systemic)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1381",
            "description": "systemic lupus erythematosis/sle",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11209,
        "concept_version_id": 18694,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4359",
        "phenotype_version_id": 9577,
        "phenotype_name": "Lupus erythematosus (local and systemic)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L93",
            "description": "Lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M32",
            "description": "Systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11210,
        "concept_version_id": 18695,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4359",
        "phenotype_version_id": 9577,
        "phenotype_name": "Lupus erythematosus (local and systemic)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L93",
            "description": "Lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M32",
            "description": "Systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11211,
        "concept_version_id": 18696,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4359",
        "phenotype_version_id": 9577,
        "phenotype_name": "Lupus erythematosus (local and systemic)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L93",
            "description": "Lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M32",
            "description": "Systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11212,
        "concept_version_id": 18697,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4359",
        "phenotype_version_id": 9577,
        "phenotype_name": "Lupus erythematosus (local and systemic)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "L93",
            "description": "Lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M32",
            "description": "Systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11213,
        "concept_version_id": 18698,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4359",
        "phenotype_version_id": 9577,
        "phenotype_name": "Lupus erythematosus (local and systemic)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "F371000",
            "description": "Polyneuropathy in disseminated lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F396100",
            "description": "Myopathy due to disseminated lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F4D3300",
            "description": "Eyelid discoid lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H57y400",
            "description": "Lung disease with systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K01x400",
            "description": "Nephrotic syndrome in systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K01x411",
            "description": "Lupus nephritis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K0B4000",
            "description": "Renal tubulo-interstitial disorder in SLE",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154.00",
            "description": "Lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154000",
            "description": "Lupus erythematosus chronicus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154100",
            "description": "Discoid lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154200",
            "description": "Lupus erythematosus migrans",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154300",
            "description": "Lupus erythematosus nodularis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154400",
            "description": "Lupus erythematosus profundus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154500",
            "description": "Lupus erythematosus tumidus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154600",
            "description": "Lupus erythematosus unguium mutilans",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154700",
            "description": "Subacute cutaneous lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M154z00",
            "description": "Lupus erythematosus NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Myu7800",
            "description": "[X]Other local lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N000.00",
            "description": "Systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N000000",
            "description": "Disseminated lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N000100",
            "description": "Libman-Sacks disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N000200",
            "description": "Drug-induced systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N000300",
            "description": "Systemic lupus erythematosus with organ or sys involv",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N000400",
            "description": "Systemic lupus erythematosus with pericarditis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N000600",
            "description": "Cerebral lupus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N000z00",
            "description": "Systemic lupus erythematosus NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Nyu4300",
            "description": "[X]Other forms of systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X00Dx",
            "description": "Cerebral lupus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X704h",
            "description": "Subacute cutaneous lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaBE1",
            "description": "Renal tubulo-interstitial disorder in systemic lupus erythematosus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaC1J",
            "description": "Systemic lupus erythematosus with pericarditis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZRq8.00",
            "description": "Systemic lupus activity measure",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZRq8.11",
            "description": "SLAM - Systemic lupus activity measure",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZRq9.00",
            "description": "Systemic lupus erythematosus disease activity index",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZRq9.11",
            "description": "SLEDAI-Sys lup ery dis act ind",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/55h5-pv87",
    "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": 9577,
        "version_name": "Lupus erythematosus (local and systemic)",
        "version_date": "2026-06-08T20:19:43.513790Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]