[
  {
    "phenotype_id": "PH4183",
    "phenotype_version_id": 9401,
    "name": "Fibromatoses",
    "definition": "A group of soft tissue tumors which have certain characteristics in common, including absence of cytologic and clinical malignant features, a histology consistent with proliferation of well\\-differentiated fibroblasts, an infiltrative growth pattern, and aggressive clinical behavior with frequent local recurrence.\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": "2026-06-08T20:10:10.230422Z",
    "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": "2026-06-08T20:10:10.224854Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Fibromatosis (morphologic abnormality)",
        "value": 561043
      }
    ],
    "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
      },
      {
        "name": "OPCS4 codes",
        "value": 7
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 10136,
        "concept_version_id": 17621,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4183",
        "phenotype_version_id": 9401,
        "phenotype_name": "Fibromatoses",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1540",
            "description": "plantar fascitis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "1544",
            "description": "dupuytren's contracture",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10137,
        "concept_version_id": 17622,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4183",
        "phenotype_version_id": 9401,
        "phenotype_name": "Fibromatoses",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M72.0",
            "description": "Palmar fascial fibromatosis [Dupuytren]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M72.1",
            "description": "Knuckle pads",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10138,
        "concept_version_id": 17623,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4183",
        "phenotype_version_id": 9401,
        "phenotype_name": "Fibromatoses",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M72.0",
            "description": "Palmar fascial fibromatosis [Dupuytren]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M72.1",
            "description": "Knuckle pads",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10139,
        "concept_version_id": 17624,
        "concept_name": "Operative procedures - main OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4183",
        "phenotype_version_id": 9401,
        "phenotype_name": "Fibromatoses",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "T52.1",
            "description": "Palmar fasciectomy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "T52.2",
            "description": "Revision of palmar fasciectomy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "T54.1",
            "description": "Division of palmar fascia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10140,
        "concept_version_id": 17625,
        "concept_name": "Operative procedures - secondary OPCS4",
        "coding_system": {
          "id": 7,
          "name": "OPCS4 codes",
          "description": "OPCS4 codes"
        },
        "phenotype_id": "PH4183",
        "phenotype_version_id": 9401,
        "phenotype_name": "Fibromatoses",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "T52.1",
            "description": "T52.1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "T52.2",
            "description": "T52.2",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "T54.1",
            "description": "T54.1",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10141,
        "concept_version_id": 17626,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4183",
        "phenotype_version_id": 9401,
        "phenotype_name": "Fibromatoses",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M72.0",
            "description": "Palmar fascial fibromatosis [Dupuytren]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M72.1",
            "description": "Knuckle pads",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10142,
        "concept_version_id": 17627,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4183",
        "phenotype_version_id": 9401,
        "phenotype_name": "Fibromatoses",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "M72.0",
            "description": "Palmar fascial fibromatosis [Dupuytren]",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M72.1",
            "description": "Knuckle pads",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10143,
        "concept_version_id": 17628,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4183",
        "phenotype_version_id": 9401,
        "phenotype_name": "Fibromatoses",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "7H32000",
            "description": "Palmar fasciectomy unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H32011",
            "description": "Dupuytren hand fasciectomy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H32013",
            "description": "McIndoe radical palmar fasciectomy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H32100",
            "description": "Revision of palmar fasciectomy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H32400",
            "description": "Limited palmar fasciectomy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H32500",
            "description": "Radical palmar fasciectomy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H32700",
            "description": "Palmar fasciectomy using open palm technique",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H34000",
            "description": "Division of palmar fascia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H34011",
            "description": "Division of hand fascia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H34012",
            "description": "Dupuytren hand fasciotomy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H34300",
            "description": "Needle fasciotomy of hand",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7H35700",
            "description": "Fasciotomy hand",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236.00",
            "description": "Dupuytren's contracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236000",
            "description": "Dupuytren's disease of palm",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236100",
            "description": "Dupuytren's disease of palm, nodules with no contracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236.11",
            "description": "Palmar fascia contracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236200",
            "description": "Dupuytren's disease of palm, with contracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236300",
            "description": "Dupuytren's disease of finger(s)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236400",
            "description": "Dupuytren's disease - finger(s), nodules with no contracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236500",
            "description": "Dupuytren's disease of finger(s), with contracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236600",
            "description": "Dupuytren's disease of palm and finger(s)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236700",
            "description": "Dupuytren's dis, palm and finger(s), nodules, no contracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N236800",
            "description": "Dupuytren's disease of palm and finger(s), with contracture",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N237100",
            "description": "Knuckle pads",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaXYd",
            "description": "Needle fasciotomy of hand",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE04s",
            "description": "Palmar fasciectomy unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE04t",
            "description": "Division of palmar fascia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XM0ug",
            "description": "Dupuytren's contracture",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/jtgk-fa31",
    "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": 9401,
        "version_name": "Fibromatoses",
        "version_date": "2026-06-08T20:10:10.240131Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]