[
  {
    "phenotype_id": "PH4372",
    "phenotype_version_id": 9590,
    "name": "Systemic sclerosis",
    "definition": "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.\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": "2026-06-08T20:20:44.173554Z",
    "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": "2026-06-08T20:20:44.167999Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Systemic sclerosis (disorder)",
        "value": 162854
      }
    ],
    "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": 11285,
        "concept_version_id": 18770,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4372",
        "phenotype_version_id": 9590,
        "phenotype_name": "Systemic sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1384",
            "description": "scleroderma/systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11286,
        "concept_version_id": 18771,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4372",
        "phenotype_version_id": 9590,
        "phenotype_name": "Systemic sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M34",
            "description": "Systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11287,
        "concept_version_id": 18772,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4372",
        "phenotype_version_id": 9590,
        "phenotype_name": "Systemic sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M34",
            "description": "Systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11288,
        "concept_version_id": 18773,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4372",
        "phenotype_version_id": 9590,
        "phenotype_name": "Systemic sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M34",
            "description": "Systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11289,
        "concept_version_id": 18774,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4372",
        "phenotype_version_id": 9590,
        "phenotype_name": "Systemic sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M34",
            "description": "Systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 11290,
        "concept_version_id": 18775,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4372",
        "phenotype_version_id": 9590,
        "phenotype_name": "Systemic sclerosis",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "F396600",
            "description": "Myopathy due to scleroderma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "H572.00",
            "description": "Lung disease with systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K0H..00",
            "description": "Acute scleroderma renal crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K0J0.00",
            "description": "Renal involvement in scleroderma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N001.00",
            "description": "Scleroderma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N001000",
            "description": "Progressive systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N001100",
            "description": "CREST syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N001.11",
            "description": "Acrosclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N001.12",
            "description": "Systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N001200",
            "description": "Systemic sclerosis induced by drugs and chemicals",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Nyu4500",
            "description": "[X]Other forms of systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X30Kt",
            "description": "Renal involvement in scleroderma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X30Ku",
            "description": "Acute scleroderma renal crisis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaQbV",
            "description": "Progressive systemic sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE1DF",
            "description": "Scleroderma",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/rk3x-c226",
    "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": 9590,
        "version_name": "Systemic sclerosis",
        "version_date": "2026-06-08T20:20:44.185383Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]