[
  {
    "phenotype_id": "PH4247",
    "phenotype_version_id": 9465,
    "name": "Neuromuscular dysfunction of bladder",
    "definition": "Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION.\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": "2026-06-08T20:13:31.555580Z",
    "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": "2026-06-08T20:13:31.549860Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Neurogenic dysfunction of urinary bladder (finding)",
        "value": 539078
      }
    ],
    "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": 10525,
        "concept_version_id": 18010,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4247",
        "phenotype_version_id": 9465,
        "phenotype_name": "Neuromuscular dysfunction of bladder",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "N31",
            "description": "Neuromuscular dysfunction of bladder, not elsewhere classified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10526,
        "concept_version_id": 18011,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4247",
        "phenotype_version_id": 9465,
        "phenotype_name": "Neuromuscular dysfunction of bladder",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "N31",
            "description": "Neuromuscular dysfunction of bladder, not elsewhere classified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10527,
        "concept_version_id": 18012,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4247",
        "phenotype_version_id": 9465,
        "phenotype_name": "Neuromuscular dysfunction of bladder",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "N31",
            "description": "Neuromuscular dysfunction of bladder, not elsewhere classified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10528,
        "concept_version_id": 18013,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4247",
        "phenotype_version_id": 9465,
        "phenotype_name": "Neuromuscular dysfunction of bladder",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "N31",
            "description": "Neuromuscular dysfunction of bladder, not elsewhere classified",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10529,
        "concept_version_id": 18014,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4247",
        "phenotype_version_id": 9465,
        "phenotype_name": "Neuromuscular dysfunction of bladder",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "F246111",
            "description": "Atonic bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F246112",
            "description": "Neurogenic bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F246113",
            "description": "Neuropathic bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K164.00",
            "description": "Atony of bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K164000",
            "description": "Hypotonic bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K164100",
            "description": "Bladder inertia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K164.11",
            "description": "Atonic bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K164z00",
            "description": "Atony of bladder NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K165.00",
            "description": "Other functional disorder of bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K165000",
            "description": "Hypertonic bladder sphincter",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K165100",
            "description": "Bladder sphincter paralysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K165300",
            "description": "Detrusor instability",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K165400",
            "description": "Unstable bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K165z00",
            "description": "Other bladder function disorder NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16V.00",
            "description": "Neuromuscular dysfunction of bladder, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16V000",
            "description": "Neuropathic bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16V011",
            "description": "Neurogenic bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16V100",
            "description": "Overactive bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16W.00",
            "description": "Reflex neuropathic bladder, not elsewhere classified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16X.00",
            "description": "Uninhibited neuropathic bladder, NEC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16y4",
            "description": "Detrusor instability",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16y400",
            "description": "Irritable bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16y411",
            "description": "Detrusor instability",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16y412",
            "description": "Unstable bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16y800",
            "description": "Functional disorder of bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "K16y811",
            "description": "Functional voiding disorder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Kyu5200",
            "description": "[X]Other neuromuscular dysfunction of bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Kyu5E00",
            "description": "[X]Neuromuscular dysfunction of bladder, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X30Ni",
            "description": "Functional disorder of bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X30Nj",
            "description": "Neuropathic bladder",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE15W",
            "description": "Cauda equina syndrome with cord bladder",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/qd9h-2y71",
    "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": 9465,
        "version_name": "Neuromuscular dysfunction of bladder",
        "version_date": "2026-06-08T20:13:31.567084Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]