[
  {
    "phenotype_id": "PH4278",
    "phenotype_version_id": 9496,
    "name": "Multiple myeloma and malignant plasma cell neoplasms",
    "definition": "A bone marrow\\-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia.\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": "2026-06-08T20:15:19.931057Z",
    "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": "2026-06-08T20:15:19.925690Z",
    "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": 10704,
        "concept_version_id": 18189,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4278",
        "phenotype_version_id": 9496,
        "phenotype_name": "Multiple myeloma and malignant plasma cell neoplasms",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1050",
            "description": "Multiple myeloma",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10705,
        "concept_version_id": 18190,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4278",
        "phenotype_version_id": 9496,
        "phenotype_name": "Multiple myeloma and malignant plasma cell neoplasms",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C88.0",
            "description": "Waldenstrom macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C88.2",
            "description": "Other heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C90",
            "description": "Multiple myeloma and malignant plasma cell neoplasms",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10706,
        "concept_version_id": 18191,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4278",
        "phenotype_version_id": 9496,
        "phenotype_name": "Multiple myeloma and malignant plasma cell neoplasms",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C88.0",
            "description": "Waldenstrom macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C88.2",
            "description": "Other heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C90",
            "description": "Multiple myeloma and malignant plasma cell neoplasms",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10707,
        "concept_version_id": 18192,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4278",
        "phenotype_version_id": 9496,
        "phenotype_name": "Multiple myeloma and malignant plasma cell neoplasms",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C88.0",
            "description": "Waldenstrom macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C88.2",
            "description": "Other heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C90",
            "description": "Multiple myeloma and malignant plasma cell neoplasms",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10708,
        "concept_version_id": 18193,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4278",
        "phenotype_version_id": 9496,
        "phenotype_name": "Multiple myeloma and malignant plasma cell neoplasms",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C88.0",
            "description": "Waldenstrom macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C88.2",
            "description": "Other heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C90",
            "description": "Multiple myeloma and malignant plasma cell neoplasms",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10709,
        "concept_version_id": 18194,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4278",
        "phenotype_version_id": 9496,
        "phenotype_name": "Multiple myeloma and malignant plasma cell neoplasms",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "B63..00",
            "description": "Multiple myeloma and immunoproliferative neoplasms",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B630.00",
            "description": "Multiple myeloma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B630000",
            "description": "Malignant plasma cell neoplasm, extramedullary plasmacytoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B630100",
            "description": "Solitary myeloma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B630.11",
            "description": "Kahler's disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B630.12",
            "description": "Myelomatosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B630200",
            "description": "Plasmacytoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B630300",
            "description": "Lambda light chain myeloma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B630400",
            "description": "Solitary plasmacytoma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B631.00",
            "description": "Plasma cell leukaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B63z.00",
            "description": "Immunoproliferative neoplasm or myeloma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B936.11",
            "description": "Myeloma - solitary",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B936.12",
            "description": "Plasmacytoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBm6.00",
            "description": "[M] Alpha heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBmE.00",
            "description": "[M] Gamma heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBmK.00",
            "description": "[M]Waldenstrom's macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn..00",
            "description": "[M]Plasma cell tumours",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn0.00",
            "description": "[M]Plasma cell myeloma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn0.11",
            "description": "[M]Multiple myeloma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn0.12",
            "description": "[M]Myeloma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn0.13",
            "description": "[M]Myelomatosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn0.14",
            "description": "[M]Plasmacytic myeloma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn2.00",
            "description": "[M]Plasmacytoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn2.11",
            "description": "[M]Monostotic myeloma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn2.12",
            "description": "[M]Solitary myeloma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBn3.00",
            "description": "[M]Plasma cell tumour, malignant",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBnz.00",
            "description": "[M]Plasma cell tumour NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBr3.00",
            "description": "[M]Plasma cell leukaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBr3z00",
            "description": "[M]Plasma cell leukaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C333.00",
            "description": "Macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C333000",
            "description": "Waldenstrom's macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C333011",
            "description": "Waldenstrom macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C333100",
            "description": "Alpha heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C333200",
            "description": "Gamma heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C333300",
            "description": "Heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C333z00",
            "description": "Macroglobulinaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Xa0SM",
            "description": "Heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaBB3",
            "description": "Plasma cell leukaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaBLx",
            "description": "Plasmacytoma NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaBLz",
            "description": "[M]Waldenstrom's macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaELI",
            "description": "Lambda light chain myeloma",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE1wP",
            "description": "Neoplasm of uncertain behaviour of plasma cells",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10710,
        "concept_version_id": 18195,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4278",
        "phenotype_version_id": 9496,
        "phenotype_name": "Multiple myeloma and malignant plasma cell neoplasms",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C88.0",
            "description": "Waldenstrom macroglobulinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C88.2",
            "description": "Other heavy chain disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C90",
            "description": "Multiple myeloma and malignant plasma cell neoplasms",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/3pz8-fq44",
    "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": 9496,
        "version_name": "Multiple myeloma and malignant plasma cell neoplasms",
        "version_date": "2026-06-08T20:15:19.940922Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]