[
  {
    "phenotype_id": "PH4112",
    "phenotype_version_id": 9330,
    "name": "Disorders of autonomic nervous system",
    "definition": "Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION.\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": "2026-06-08T20:06:21.784086Z",
    "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": "2026-06-08T20:06:21.778592Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Autonomic neuropathy (disorder)",
        "value": 39774
      }
    ],
    "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": 9687,
        "concept_version_id": 17172,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4112",
        "phenotype_version_id": 9330,
        "phenotype_name": "Disorders of autonomic nervous system",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G90",
            "description": "Disorders of autonomic nervous system",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G99.0",
            "description": "Autonomic neuropathy in endocrine and metabolic diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G99.1",
            "description": "Other disorders of autonomic nervous system in other diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M89.0",
            "description": "Algoneurodystrophy",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9688,
        "concept_version_id": 17173,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4112",
        "phenotype_version_id": 9330,
        "phenotype_name": "Disorders of autonomic nervous system",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G90",
            "description": "Disorders of autonomic nervous system",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G99.0",
            "description": "Autonomic neuropathy in endocrine and metabolic diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G99.1",
            "description": "Other disorders of autonomic nervous system in other diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M89.0",
            "description": "Algoneurodystrophy",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9689,
        "concept_version_id": 17174,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4112",
        "phenotype_version_id": 9330,
        "phenotype_name": "Disorders of autonomic nervous system",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G90",
            "description": "Disorders of autonomic nervous system",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G99.0",
            "description": "Autonomic neuropathy in endocrine and metabolic diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G99.1",
            "description": "Other disorders of autonomic nervous system in other diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M89.0",
            "description": "Algoneurodystrophy",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9690,
        "concept_version_id": 17175,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4112",
        "phenotype_version_id": 9330,
        "phenotype_name": "Disorders of autonomic nervous system",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "G90",
            "description": "Disorders of autonomic nervous system",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G99.0",
            "description": "Autonomic neuropathy in endocrine and metabolic diseases",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "G99.1",
            "description": "Other disorders of autonomic nervous system in other diseases classified elsewhere",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "M89.0",
            "description": "Algoneurodystrophy",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 9691,
        "concept_version_id": 17176,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4112",
        "phenotype_version_id": 9330,
        "phenotype_name": "Disorders of autonomic nervous system",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "2BE3.00",
            "description": "O/E - Horner's syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F17..00",
            "description": "Autonomic nervous system disorders",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F170.00",
            "description": "Idiopathic peripheral autonomic neuropathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F170000",
            "description": "Carotid sinus syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F170100",
            "description": "Cervical sympathetic paralysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F170z00",
            "description": "Idiopathic peripheral autonomic neuropathy NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F171.00",
            "description": "Peripheral autonomic neuropathy disease EC",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F171000",
            "description": "Autonomic neuropathy due to amyloid",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F171100",
            "description": "Autonomic neuropathy due to diabetes",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F171z00",
            "description": "Peripheral autonomic neuropathy due to disease NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F172.00",
            "description": "[X] Horners syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F173.00",
            "description": "Shoulder-hand syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F175.00",
            "description": "Autonomic dysreflexia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F17z.00",
            "description": "Autonomic nervous system disorder NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F17z.11",
            "description": "Horner's syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F17z.12",
            "description": "Autonomic failure",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F344.",
            "description": "Complex regional pain syndrome type II",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F347.00",
            "description": "Complex regional pain syndrome type II",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "F369.00",
            "description": "Complex regional pain syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "FyuAC00",
            "description": "[X]Autonomic neuropathy/endocrine+metabolic diseases CE",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "FyuAD00",
            "description": "[X]Other disordrs/autonomic nervous system/other diseases CE",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337.",
            "description": "Complex regional pain syndrome type I",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337.00",
            "description": "Algoneurodystrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337100",
            "description": "Sudek's atrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337.11",
            "description": "Algodystrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337111",
            "description": "Reflex sympathetic dystrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337.12",
            "description": "Reflex sympathetic dystrophy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337200",
            "description": "Algodystrophy of hand",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337300",
            "description": "Algodystrophy of knee",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337400",
            "description": "Algodystrophy of foot",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N337z00",
            "description": "Algoneurodystrophy NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "N33C.00",
            "description": "Complex regional pain syndrome type I",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "P2x2.00",
            "description": "Familial dysautonomia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "P2x5.",
            "description": "Familial dysautonomia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "P2x5.00",
            "description": "Riley - Day syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "X00CM",
            "description": "Shoulder-hand syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Xa0y5",
            "description": "Complex regional pain syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaYP0",
            "description": "Autonomic dysreflexia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE15R",
            "description": "Autonomic nervous system disorder NOS",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/j361-e716",
    "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": 9330,
        "version_name": "Disorders of autonomic nervous system",
        "version_date": "2026-06-08T20:06:21.794418Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]