[
  {
    "phenotype_id": "PH4131",
    "phenotype_version_id": 9349,
    "name": "Other Cardiomyopathy",
    "definition": "A disease of the heart muscle or myocardium proper.\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": "2026-06-08T20:07:22.494788Z",
    "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": "2026-06-08T20:07:22.488703Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Cardiomyopathy (disorder)",
        "value": 50725
      }
    ],
    "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": "ICD10 codes",
        "value": 4
      },
      {
        "name": "Read codes v3",
        "value": 6
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 9800,
        "concept_version_id": 17285,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4131",
        "phenotype_version_id": 9349,
        "phenotype_name": "Other Cardiomyopathy",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I25.5",
            "description": "Ischaemic cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.3",
            "description": "Endomyocardial (eosinophilic) disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.5",
            "description": "Other restrictive cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.7",
            "description": "Cardiomyopathy due to drugs and other external agents",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.8",
            "description": "Other cardiomyopathies",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.9",
            "description": "Cardiomyopathy, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I43",
            "description": "Cardiomyopathy in diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9801,
        "concept_version_id": 17286,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4131",
        "phenotype_version_id": 9349,
        "phenotype_name": "Other Cardiomyopathy",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I25.5",
            "description": "Ischaemic cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.3",
            "description": "Endomyocardial (eosinophilic) disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.5",
            "description": "Other restrictive cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.7",
            "description": "Cardiomyopathy due to drugs and other external agents",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.8",
            "description": "Other cardiomyopathies",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.9",
            "description": "Cardiomyopathy, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I43",
            "description": "Cardiomyopathy in diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9802,
        "concept_version_id": 17287,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4131",
        "phenotype_version_id": 9349,
        "phenotype_name": "Other Cardiomyopathy",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I25.5",
            "description": "Ischaemic cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.3",
            "description": "Endomyocardial (eosinophilic) disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.5",
            "description": "Other restrictive cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.7",
            "description": "Cardiomyopathy due to drugs and other external agents",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.8",
            "description": "Other cardiomyopathies",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.9",
            "description": "Cardiomyopathy, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I43",
            "description": "Cardiomyopathy in diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9803,
        "concept_version_id": 17288,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4131",
        "phenotype_version_id": 9349,
        "phenotype_name": "Other Cardiomyopathy",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "I25.5",
            "description": "Ischaemic cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.3",
            "description": "Endomyocardial (eosinophilic) disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.5",
            "description": "Other restrictive cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.7",
            "description": "Cardiomyopathy due to drugs and other external agents",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.8",
            "description": "Other cardiomyopathies",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I42.9",
            "description": "Cardiomyopathy, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "I43",
            "description": "Cardiomyopathy in diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9804,
        "concept_version_id": 17289,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4131",
        "phenotype_version_id": 9349,
        "phenotype_name": "Other Cardiomyopathy",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "C373300",
            "description": "Familial cardiac amyloid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "C373G00",
            "description": "Senile cardiac amyloidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F391B00",
            "description": "Cardiomyopathy in Duchenne muscular dystrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G343.00",
            "description": "Ischaemic cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G55..00",
            "description": "Cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G550.00",
            "description": "Endomyocardial fibrosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G552.00",
            "description": "Obscure African cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G554.00",
            "description": "Other primary cardiomyopathies",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G554100",
            "description": "Constrictive cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G554200",
            "description": "Familial cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G554500",
            "description": "Takotsubo cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G554511",
            "description": "Stress cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G554z00",
            "description": "Other primary cardiomyopathy NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G557.00",
            "description": "Nutritional and metabolic cardiomyopathies",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G557000",
            "description": "Amyloid heart disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G557011",
            "description": "Cardiac amyloidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G557100",
            "description": "Beriberi heart disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G557500",
            "description": "Thyrotoxic heart disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G557z00",
            "description": "Nutritional and metabolic cardiomyopathy NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G558.00",
            "description": "Cardiomyopathy in disease EC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G558000",
            "description": "Cardiomyopathy in Friedreich's ataxia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G558100",
            "description": "Cardiomyopathy in myotonic dystrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G558200",
            "description": "Dystrophic cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G558400",
            "description": "Amyloid cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G558z00",
            "description": "Cardiomyopathy in diseases EC, NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G559.00",
            "description": "Arrhythmogenic right ventricular cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G55A.00",
            "description": "Tachycardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G55A.11",
            "description": "Tachycardia-induced cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G55y.00",
            "description": "Secondary cardiomyopathy NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G55y000",
            "description": "Cardiomyopathy due to drugs and other external agents",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G55z.00",
            "description": "Cardiomyopathy NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Gyu5N00",
            "description": "[X]Other restrictive cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Gyu5P00",
            "description": "[X]Other cardiomyopathies",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Gyu5R00",
            "description": "[X]Cardiomyopathy in metabolic diseases CE",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Xa1fq",
            "description": "Arrhythmogenic right ventricular cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaI9b",
            "description": "Cardiomyopathy in Duchenne muscular dystrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaWye",
            "description": "Takotsubo cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaZcx",
            "description": "Amyloid cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaZSw",
            "description": "Senile cardiac amyloidosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0Uy",
            "description": "Obscure African cardiomyopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0V0",
            "description": "Nutritional and metabolic cardiomyopathy NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE0V1",
            "description": "Secondary cardiomyopathy NOS",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/016g-ch04",
    "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": 9349,
        "version_name": "Other Cardiomyopathy",
        "version_date": "2026-06-08T20:07:22.505253Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]