[
  {
    "phenotype_id": "PH4301",
    "phenotype_version_id": 9519,
    "name": "Primary Malignancy_Malignant Melanoma",
    "definition": "A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites.\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": "2026-06-08T20:16:28.684131Z",
    "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": "2026-06-08T20:16:28.678894Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": null,
    "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": 10851,
        "concept_version_id": 18336,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4301",
        "phenotype_version_id": 9519,
        "phenotype_name": "Primary Malignancy_Malignant Melanoma",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1003",
            "description": "skin cancer",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "1059",
            "description": "malignant melanoma",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10852,
        "concept_version_id": 18337,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4301",
        "phenotype_version_id": 9519,
        "phenotype_name": "Primary Malignancy_Malignant Melanoma",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C43",
            "description": "Malignant melanoma of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10853,
        "concept_version_id": 18338,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4301",
        "phenotype_version_id": 9519,
        "phenotype_name": "Primary Malignancy_Malignant Melanoma",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C43",
            "description": "Malignant melanoma of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10854,
        "concept_version_id": 18339,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4301",
        "phenotype_version_id": 9519,
        "phenotype_name": "Primary Malignancy_Malignant Melanoma",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C43",
            "description": "Malignant melanoma of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10855,
        "concept_version_id": 18340,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4301",
        "phenotype_version_id": 9519,
        "phenotype_name": "Primary Malignancy_Malignant Melanoma",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C43",
            "description": "Malignant melanoma of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10856,
        "concept_version_id": 18341,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4301",
        "phenotype_version_id": 9519,
        "phenotype_name": "Primary Malignancy_Malignant Melanoma",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1425000.0",
            "description": "H/O Malignant melanoma",
            "attributes": {
              "type": "prevalent"
            }
          },
          {
            "code": "4M3..00",
            "description": "Breslow depth staging for melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4M70.00",
            "description": "Clark melanoma level 1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4M71.00",
            "description": "Clark melanoma level 2",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4M72.00",
            "description": "Clark melanoma level 3",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4M73.00",
            "description": "Clark melanoma level 4",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "4M74.00",
            "description": "Clark melanoma level 5",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7G03J00",
            "description": "Excision of melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B32..00",
            "description": "Malignant melanoma of skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B320.00",
            "description": "Malignant melanoma of lip",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B321.00",
            "description": "Malignant melanoma of eyelid including canthus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B322.00",
            "description": "Malignant melanoma of ear and external auricular canal",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B322000",
            "description": "Malignant melanoma of auricle (ear)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B322100",
            "description": "Malignant melanoma of external auditory meatus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B322z00",
            "description": "Malignant melanoma of ear and external auricular canal NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B323.00",
            "description": "Malignant melanoma of other and unspecified parts of face",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B323000",
            "description": "Malignant melanoma of external surface of cheek",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B323100",
            "description": "Malignant melanoma of chin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B323200",
            "description": "Malignant melanoma of eyebrow",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B323300",
            "description": "Malignant melanoma of forehead",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B323400",
            "description": "Malignant melanoma of external surface of nose",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B323500",
            "description": "Malignant melanoma of temple",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B323z00",
            "description": "Malignant melanoma of face NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B324.00",
            "description": "Malignant melanoma of scalp and neck",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B324000",
            "description": "Malignant melanoma of scalp",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B324100",
            "description": "Malignant melanoma of neck",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B324z00",
            "description": "Malignant melanoma of scalp and neck NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325.00",
            "description": "Malignant melanoma of trunk (excluding scrotum)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325000",
            "description": "Malignant melanoma of axilla",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325100",
            "description": "Malignant melanoma of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325200",
            "description": "Malignant melanoma of buttock",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325300",
            "description": "Malignant melanoma of groin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325400",
            "description": "Malignant melanoma of perianal skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325500",
            "description": "Malignant melanoma of perineum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325600",
            "description": "Malignant melanoma of umbilicus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325700",
            "description": "Malignant melanoma of back",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325800",
            "description": "Malignant melanoma of chest wall",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B325z00",
            "description": "Malignant melanoma of trunk, excluding scrotum, NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B326.00",
            "description": "Malignant melanoma of upper limb and shoulder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B326000",
            "description": "Malignant melanoma of shoulder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B326100",
            "description": "Malignant melanoma of upper arm",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B326200",
            "description": "Malignant melanoma of fore-arm",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B326300",
            "description": "Malignant melanoma of hand",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B326400",
            "description": "Malignant melanoma of finger",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B326500",
            "description": "Malignant melanoma of thumb",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B326z00",
            "description": "Malignant melanoma of upper limb or shoulder NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327.00",
            "description": "Malignant melanoma of lower limb and hip",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327000",
            "description": "Malignant melanoma of hip",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327100",
            "description": "Malignant melanoma of thigh",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327200",
            "description": "Malignant melanoma of knee",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327300",
            "description": "Malignant melanoma of popliteal fossa area",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327400",
            "description": "Malignant melanoma of lower leg",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327500",
            "description": "Malignant melanoma of ankle",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327600",
            "description": "Malignant melanoma of heel",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327700",
            "description": "Malignant melanoma of foot",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327800",
            "description": "Malignant melanoma of toe",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327900",
            "description": "Malignant melanoma of great toe",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B327z00",
            "description": "Malignant melanoma of lower limb or hip NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B32y.00",
            "description": "Malignant melanoma of other specified skin site",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B32y000",
            "description": "Overlapping malignant melanoma of skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B32z.00",
            "description": "Malignant melanoma of skin NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBE1.00",
            "description": "[M]Malignant melanoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBE1000",
            "description": "[M]Malignant melanoma, regressing",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBE1100",
            "description": "[M]Desmoplastic melanoma, malignant",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBE1.11",
            "description": "[M]Melanocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBE1.12",
            "description": "[M]Melanoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBE1.13",
            "description": "[M]Melanosarcoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBE2.00",
            "description": "[M]Nodular melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBE4.00",
            "description": "[M]Balloon cell melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEA.00",
            "description": "[M]Amelanotic melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEC.00",
            "description": "[M]Malignant melanoma in junctional naevus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEF.00",
            "description": "[M]Hutchinson's melanotic freckle",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEF.11",
            "description": "[M]Lentigo maligna",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEG.00",
            "description": "[M]Malignant melanoma in Hutchinson's melanotic freckle",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEG000",
            "description": "[M]Acral lentiginous melanoma, malignant",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEG.11",
            "description": "[M]Lentigo maligna melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEH.00",
            "description": "[M]Superficial spreading melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEM.00",
            "description": "[M]Malignant melanoma in giant pigmented naevus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEN.11",
            "description": "[M]Juvenila melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEP.00",
            "description": "[M]Epithelioid cell melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBEQ.00",
            "description": "[M]Spindle cell melanoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBES.00",
            "description": "[M]Spindle cell melanoma, type B",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBET.00",
            "description": "[M]Mixed epithelioid and spindle melanoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Byu4000",
            "description": "[X]Malignant melanoma of other+unspecified parts of face",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Byu4100",
            "description": "[X]Malignant melanoma of skin, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaCIv",
            "description": "Malignant melanoma of back",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaEGU",
            "description": "Malignant melanoma of chest wall",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE1wX",
            "description": "[M]Malignant melanoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XSHw4",
            "description": "Clark melanoma level 1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XSHw5",
            "description": "Clark melanoma level 2",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XSHw6",
            "description": "Clark melanoma level 3",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XSHw7",
            "description": "Clark melanoma level 4",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XSHw8",
            "description": "Clark melanoma level 5",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XSNL7",
            "description": "Breslow depth staging for melanoma",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10857,
        "concept_version_id": 18342,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4301",
        "phenotype_version_id": 9519,
        "phenotype_name": "Primary Malignancy_Malignant Melanoma",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C43",
            "description": "Malignant melanoma of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/5c8z-bx96",
    "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": 9519,
        "version_name": "Primary Malignancy_Malignant Melanoma",
        "version_date": "2026-06-08T20:16:28.695070Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]