[
  {
    "phenotype_id": "PH4310",
    "phenotype_version_id": 9528,
    "name": "Primary Malignancy_Other Skin and subcutaneous tissue",
    "definition": "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.\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": "2026-06-08T20:16:59.026252Z",
    "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": "2026-06-08T20:16:59.016774Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Neoplasm of skin (disorder)",
        "value": 674241
      }
    ],
    "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": 10914,
        "concept_version_id": 18399,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4310",
        "phenotype_version_id": 9528,
        "phenotype_name": "Primary Malignancy_Other Skin and subcutaneous tissue",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1003",
            "description": "skin cancer",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "1060",
            "description": "non-melanoma skin cancer",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10915,
        "concept_version_id": 18400,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4310",
        "phenotype_version_id": 9528,
        "phenotype_name": "Primary Malignancy_Other Skin and subcutaneous tissue",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C44",
            "description": "Other malignant neoplasms of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10916,
        "concept_version_id": 18401,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4310",
        "phenotype_version_id": 9528,
        "phenotype_name": "Primary Malignancy_Other Skin and subcutaneous tissue",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C44",
            "description": "Other malignant neoplasms of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10917,
        "concept_version_id": 18402,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4310",
        "phenotype_version_id": 9528,
        "phenotype_name": "Primary Malignancy_Other Skin and subcutaneous tissue",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C44",
            "description": "Other malignant neoplasms of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10918,
        "concept_version_id": 18403,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4310",
        "phenotype_version_id": 9528,
        "phenotype_name": "Primary Malignancy_Other Skin and subcutaneous tissue",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C44",
            "description": "Other malignant neoplasms of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10919,
        "concept_version_id": 18404,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4310",
        "phenotype_version_id": 9528,
        "phenotype_name": "Primary Malignancy_Other Skin and subcutaneous tissue",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "7G056",
            "description": "Excision biopsy of basal cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7G05600",
            "description": "Excision biopsy of rodent ulcer",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "7G05D00",
            "description": "Excision biopsy of basal cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33..00",
            "description": "Other malignant neoplasm of skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B330.00",
            "description": "Malignant neoplasm of skin of lip",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B331.00",
            "description": "Malignant neoplasm of eyelid including canthus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B331000",
            "description": "Malignant neoplasm of canthus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33..11",
            "description": "Basal cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B331100",
            "description": "Malignant neoplasm of upper eyelid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B331200",
            "description": "Malignant neoplasm of lower eyelid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33..13",
            "description": "Rodent ulcer",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33..14",
            "description": "Malignant neoplasm of sebaceous gland",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33..15",
            "description": "Malignant neoplasm of sweat gland",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33..16",
            "description": "Epithelioma basal cell",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B332.00",
            "description": "Malignant neoplasm skin of ear and external auricular canal",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B332000",
            "description": "Malignant neoplasm of skin of auricle (ear)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B332100",
            "description": "Malignant neoplasm of skin of external auditory meatus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B332200",
            "description": "Malignant neoplasm of pinna NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B332z00",
            "description": "Malig neop skin of ear and external auricular canal NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B333.00",
            "description": "Malignant neoplasm skin of other and unspecified parts face",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B333000",
            "description": "Malignant neoplasm of skin of cheek, external",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B333100",
            "description": "Malignant neoplasm of skin of chin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B333200",
            "description": "Malignant neoplasm of skin of eyebrow",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B333300",
            "description": "Malignant neoplasm of skin of forehead",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B333400",
            "description": "Malignant neoplasm of skin of nose (external)",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B333500",
            "description": "Malignant neoplasm of skin of temple",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B333z00",
            "description": "Malignant neoplasm skin other and unspec part of face NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B334.00",
            "description": "Malignant neoplasm of scalp and skin of neck",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B334000",
            "description": "Malignant neoplasm of scalp",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B334100",
            "description": "Malignant neoplasm of skin of neck",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B334z00",
            "description": "Malignant neoplasm of scalp or skin of neck NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335.00",
            "description": "Malignant neoplasm of skin of trunk, excluding scrotum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335000",
            "description": "Malignant neoplasm of skin of axillary fold",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335100",
            "description": "Malignant neoplasm of skin of chest, excluding breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335200",
            "description": "Malignant neoplasm of skin of breast",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335300",
            "description": "Malignant neoplasm of skin of abdominal wall",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335400",
            "description": "Malignant neoplasm of skin of umbilicus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335500",
            "description": "Malignant neoplasm of skin of groin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335600",
            "description": "Malignant neoplasm of skin of perineum",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335700",
            "description": "Malignant neoplasm of skin of back",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335800",
            "description": "Malignant neoplasm of skin of buttock",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335900",
            "description": "Malignant neoplasm of perianal skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335A00",
            "description": "Malignant neoplasm of skin of scapular region",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B335z00",
            "description": "Malignant neoplasm of skin of trunk, excluding scrotum, NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B336.00",
            "description": "Malignant neoplasm of skin of upper limb and shoulder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B336000",
            "description": "Malignant neoplasm of skin of shoulder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B336100",
            "description": "Malignant neoplasm of skin of upper arm",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B336200",
            "description": "Malignant neoplasm of skin of fore-arm",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B336300",
            "description": "Malignant neoplasm of skin of hand",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B336400",
            "description": "Malignant neoplasm of skin of finger",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B336500",
            "description": "Malignant neoplasm of skin of thumb",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B336z00",
            "description": "Malignant neoplasm of skin of upper limb or shoulder NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337.00",
            "description": "Malignant neoplasm of skin of lower limb and hip",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337000",
            "description": "Malignant neoplasm of skin of hip",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337100",
            "description": "Malignant neoplasm of skin of thigh",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337200",
            "description": "Malignant neoplasm of skin of knee",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337300",
            "description": "Malignant neoplasm of skin of popliteal fossa area",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337400",
            "description": "Malignant neoplasm of skin of lower leg",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337500",
            "description": "Malignant neoplasm of skin of ankle",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337600",
            "description": "Malignant neoplasm of skin of heel",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337700",
            "description": "Malignant neoplasm of skin of foot",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337800",
            "description": "Malignant neoplasm of skin of toe",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337900",
            "description": "Malignant neoplasm of skin of great toe",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B337z00",
            "description": "Malignant neoplasm of skin of lower limb or hip NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B338.00",
            "description": "Squamous cell carcinoma of skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B339.00",
            "description": "Dermatofibrosarcoma protuberans",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33X.00",
            "description": "Malignant neoplasm overlapping lesion of skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33y.00",
            "description": "Malignant neoplasm of other specified skin sites",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33z.00",
            "description": "Malignant neoplasm of skin NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B33z.11",
            "description": "Squamous cell carcinoma of skin NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB2A.13",
            "description": "[M]Squamous cell carcinoma of skin NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB3..00",
            "description": "[M]Basal cell neoplasms",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB30.00",
            "description": "[M]Basal cell tumour",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB31.00",
            "description": "[M]Basal cell carcinoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB32.00",
            "description": "[M]Multicentric basal cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB33.00",
            "description": "[M]Basal cell carcinoma, morphoea type",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB34.00",
            "description": "[M]Basal cell carcinoma, fibroepithelial type",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB35.00",
            "description": "[M]Basosquamous carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB36.00",
            "description": "[M]Metatypical carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB3C.00",
            "description": "[M]Superficial basal cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB3D.00",
            "description": "[M]Basal cell carcinoma, nodular",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB3E.00",
            "description": "[M]Basal cell carcinoma, micronodular",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB3F.00",
            "description": "[M]Basal cell carcinoma, infiltrative",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB3G.00",
            "description": "[M]Pigmented basal cell carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB3z.00",
            "description": "[M]Basal cell neoplasm NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB60100",
            "description": "[M]Skin appendage carcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB61200",
            "description": "[M]Sweat gland adenocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB62100",
            "description": "[M]Apocrine adenocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BB69100",
            "description": "[M]Sebaceous adenocarcinoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Byu4200",
            "description": "[X]Oth malignant neoplasm/skin of oth+unspecfd parts of face",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Byu4300",
            "description": "[X]Malignant neoplasm of skin, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Byu5A00",
            "description": "[X]Malignant neoplasm overlapping lesion of skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X78RR",
            "description": "Squamous cell carcinoma of skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Xa0D9",
            "description": "Dermatofibrosarcoma protuberans",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaCKx",
            "description": "Malignant neoplasm of canthus",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaD2P",
            "description": "Malignant neoplasm of pinna NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaD2Q",
            "description": "Malignant neoplasm of skin of scapular region",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaEGV",
            "description": "Malignant neoplasm of upper eyelid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaEGW",
            "description": "Malignant neoplasm of lower eyelid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE1vh",
            "description": "Other malignant neoplasm of skin",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ZV10y14",
            "description": "[V]Personal history of malignant neoplasm of skin",
            "attributes": {
              "type": "prevalent"
            }
          }
        ]
      },
      {
        "concept_id": 10920,
        "concept_version_id": 18405,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4310",
        "phenotype_version_id": 9528,
        "phenotype_name": "Primary Malignancy_Other Skin and subcutaneous tissue",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C44",
            "description": "Other malignant neoplasms of skin",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/71sf-b702",
    "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": 9528,
        "version_name": "Primary Malignancy_Other Skin and subcutaneous tissue",
        "version_date": "2026-06-08T20:16:59.037861Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]