[
  {
    "phenotype_id": "PH4239",
    "phenotype_version_id": 9457,
    "name": "Motor neuron disease",
    "definition": "A neurodegenerative disease that is located in the motor neurones.\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": "2026-06-08T20:13:08.085365Z",
    "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": "2026-06-08T20:13:08.079643Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Motor neuron disease (disorder)",
        "value": 536087
      }
    ],
    "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": 10477,
        "concept_version_id": 17962,
        "concept_name": "Non-cancer illness code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4239",
        "phenotype_version_id": 9457,
        "phenotype_name": "Motor neuron disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1259",
            "description": "motor neurone disease",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10478,
        "concept_version_id": 17963,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4239",
        "phenotype_version_id": 9457,
        "phenotype_name": "Motor neuron disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G12.2",
            "description": "Motor neuron disease",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10479,
        "concept_version_id": 17964,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4239",
        "phenotype_version_id": 9457,
        "phenotype_name": "Motor neuron disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G12.2",
            "description": "Motor neuron disease",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10480,
        "concept_version_id": 17965,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4239",
        "phenotype_version_id": 9457,
        "phenotype_name": "Motor neuron disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G12.2",
            "description": "Motor neuron disease",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10481,
        "concept_version_id": 17966,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4239",
        "phenotype_version_id": 9457,
        "phenotype_name": "Motor neuron disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G12.2",
            "description": "Motor neuron disease",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10482,
        "concept_version_id": 17967,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4239",
        "phenotype_version_id": 9457,
        "phenotype_name": "Motor neuron disease",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "7Q04100",
            "description": "Amyotrophic lateral sclerosis drugs Band 1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F15..00",
            "description": "Anterior horn cell disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F152.00",
            "description": "Motor neurone disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F152000",
            "description": "Amyotrophic lateral sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F152100",
            "description": "Progressive muscular atrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F152111",
            "description": "Duchenne Aran muscular atrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F152200",
            "description": "Progressive bulbar palsy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F152300",
            "description": "Pseudobulbar palsy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F152400",
            "description": "Primary lateral sclerosis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F152z00",
            "description": "Motor neurone disease NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F15y.00",
            "description": "Other anterior horn cell disease",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F15z.00",
            "description": "Anterior horn cell disease NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaMEh",
            "description": "Amyotrophic lateral sclerosis drugs Band 1",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/3exg-rg75",
    "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": 9457,
        "version_name": "Motor neuron disease",
        "version_date": "2026-06-08T20:13:08.096010Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]