[
  {
    "phenotype_id": "PH4240",
    "phenotype_version_id": 9458,
    "name": "Multiple sclerosis",
    "definition": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.\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": "2026-06-08T20:13:10.960538Z",
    "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": "2026-06-08T20:13:10.955125Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Multiple sclerosis (disorder)",
        "value": 734959
      }
    ],
    "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": 10483,
        "concept_version_id": 17968,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4240",
        "phenotype_version_id": 9458,
        "phenotype_name": "Multiple sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1261",
            "description": "multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10484,
        "concept_version_id": 17969,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4240",
        "phenotype_version_id": 9458,
        "phenotype_name": "Multiple sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G35",
            "description": "Multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10485,
        "concept_version_id": 17970,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4240",
        "phenotype_version_id": 9458,
        "phenotype_name": "Multiple sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G35",
            "description": "Multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10486,
        "concept_version_id": 17971,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4240",
        "phenotype_version_id": 9458,
        "phenotype_name": "Multiple sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G35",
            "description": "Multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10487,
        "concept_version_id": 17972,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4240",
        "phenotype_version_id": 9458,
        "phenotype_name": "Multiple sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G35",
            "description": "Multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10488,
        "concept_version_id": 17973,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4240",
        "phenotype_version_id": 9458,
        "phenotype_name": "Multiple sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "666A.00",
            "description": "Multiple sclerosis review",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "666B.00",
            "description": "Multiple sclerosis multidisciplinary review",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "8Cc0.00",
            "description": "Management of multiple sclerosis in onset phase",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "8Cc1.00",
            "description": "Management of multiple sclerosis in early disease phase",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "8Cc2.00",
            "description": "Management of multiple sclerosis in stable disability phase",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "8Cc4.00",
            "description": "Management of multiple sclerosis in palliative phase",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "8CS1.00",
            "description": "Multiple sclerosis care plan agreed",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "8IAb.00",
            "description": "Multiple sclerosis review declined",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9kG..00",
            "description": "Spec serv for pat with multiple sclerosis - enh serv admin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "9mD..00",
            "description": "Multiple sclerosis monitoring administration",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9mD0.00",
            "description": "Multiple sclerosis monitoring first letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "9mD1.00",
            "description": "Multiple sclerosis monitoring second letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "F20..00",
            "description": "Multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F200.00",
            "description": "Multiple sclerosis of the brain stem",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F201.00",
            "description": "Multiple sclerosis of the spinal cord",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F20..11",
            "description": "Disseminated sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F202.00",
            "description": "Generalised multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F203.00",
            "description": "Exacerbation of multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F204.00",
            "description": "Benign multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F206.00",
            "description": "Primary progressive multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F207.00",
            "description": "Relapsing and remitting multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F208.00",
            "description": "Secondary progressive multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F20z.00",
            "description": "Multiple sclerosis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaKvm",
            "description": "Multiple sclerosis review",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaKvn",
            "description": "Multiple sclerosis multidisciplinary review",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaKzg",
            "description": "Multiple sclerosis care plan agreed",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaOzZ",
            "description": "Benign multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaP0r",
            "description": "Primary progressive multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaP1B",
            "description": "Relapsing and remitting multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaP1V",
            "description": "Secondary progressive multiple sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaPSa",
            "description": "Management of multiple sclerosis in stable disability phase",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaPSc",
            "description": "Management of multiple sclerosis in palliative phase",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaPSY",
            "description": "Management of multiple sclerosis in onset phase",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaPSZ",
            "description": "Management of multiple sclerosis in early disease phase",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaQwl",
            "description": "Multiple sclerosis review declined",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaX9A",
            "description": "Multiple sclerosis monitoring administration",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaX9F",
            "description": "Multiple sclerosis monitoring first letter",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "XaX9H",
            "description": "Multiple sclerosis monitoring second letter",
            "attributes": {
              "type": "prevalent"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/n214-sm44",
    "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": 9458,
        "version_name": "Multiple sclerosis",
        "version_date": "2026-06-08T20:13:10.969502Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]