[
  {
    "phenotype_id": "PH4246",
    "phenotype_version_id": 9464,
    "name": "Neonatal jaundice (excl haemolytic dz of the newborn)",
    "definition": "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.\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": "2026-06-08T20:13:28.767230Z",
    "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": "2026-06-08T20:13:28.762142Z",
    "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": "ICD10 codes",
        "value": 4
      },
      {
        "name": "Read codes v3",
        "value": 6
      }
    ],
    "corresp_author": "Ana Torralbo",
    "event_date_range": null,
    "concept_information": [
      {
        "concept_id": 10520,
        "concept_version_id": 18005,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4246",
        "phenotype_version_id": 9464,
        "phenotype_name": "Neonatal jaundice (excl haemolytic dz of the newborn)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "P58",
            "description": "Neonatal jaundice due to other excessive haemolysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "P59",
            "description": "Neonatal jaundice from other and unspecified causes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10521,
        "concept_version_id": 18006,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4246",
        "phenotype_version_id": 9464,
        "phenotype_name": "Neonatal jaundice (excl haemolytic dz of the newborn)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "P58",
            "description": "Neonatal jaundice due to other excessive haemolysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "P59",
            "description": "Neonatal jaundice from other and unspecified causes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10522,
        "concept_version_id": 18007,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4246",
        "phenotype_version_id": 9464,
        "phenotype_name": "Neonatal jaundice (excl haemolytic dz of the newborn)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "P58",
            "description": "Neonatal jaundice due to other excessive haemolysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "P59",
            "description": "Neonatal jaundice from other and unspecified causes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10523,
        "concept_version_id": 18008,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4246",
        "phenotype_version_id": 9464,
        "phenotype_name": "Neonatal jaundice (excl haemolytic dz of the newborn)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "P58",
            "description": "Neonatal jaundice due to other excessive haemolysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "P59",
            "description": "Neonatal jaundice from other and unspecified causes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10524,
        "concept_version_id": 18009,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4246",
        "phenotype_version_id": 9464,
        "phenotype_name": "Neonatal jaundice (excl haemolytic dz of the newborn)",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "Q43..00",
            "description": "Other perinatal jaundice",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q430.00",
            "description": "Perinatal jaundice from hereditary haemolytic anaemias",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q430000",
            "description": "Neonatal jaundice + glucose-6-phosphate dehydrogenase defic.",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q430z00",
            "description": "Perinatal jaundice from hereditary haemolytic anaemia NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q431.00",
            "description": "Perinatal jaundice from other excessive haemolysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q431000",
            "description": "Perinatal jaundice from bruising",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q431200",
            "description": "Perinatal jaundice from infection",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q431300",
            "description": "Perinatal jaundice from polycythaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q431500",
            "description": "Perinatal jaundice from bleeding",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q431z00",
            "description": "Perinatal jaundice from haemolysis NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q432.00",
            "description": "Preterm delivery associated jaundice",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433.00",
            "description": "Other neonatal jaundice - delayed conjugation other cause",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433000",
            "description": "Delayed conjugation causing neonatal jaundice, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433200",
            "description": "Breast feeding inhibitors causing neonatal jaundice",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433300",
            "description": "Lucy - Driscoll syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433500",
            "description": "Neonatal jaundice with Dubin-Johnson syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433600",
            "description": "Neonatal jaundice with Gilbert's syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433700",
            "description": "Neonatal jaundice with congenital hypothyroidism",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433800",
            "description": "Neonatal jaundice with porphyria",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433A00",
            "description": "Neonatal jaundice from breast milk inhibitor",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433y00",
            "description": "Delayed conjugation causing neonatal jaundice OS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433y11",
            "description": "Neonatal jaundice - deficiency enzyme for bilirubin conjug.",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q433z00",
            "description": "Delayed conjugation causing neonatal jaundice NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q434.00",
            "description": "Perinatal jaundice due to hepatocellular damage",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q434000",
            "description": "Perinatal hepatitis causing jaundice, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q434100",
            "description": "Giant cell hepatitis causing neonatal jaundice",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q434200",
            "description": "Inspissated bile syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q434z00",
            "description": "Perinatal jaundice due to hepatocellular damage NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q435.00",
            "description": "Perinatal jaundice due to other cause",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q435000",
            "description": "Perinatal jaundice due to congenital obstruction bile duct",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q435100",
            "description": "Perinatal jaundice due to galactosaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q435z00",
            "description": "Perinatal jaundice due to other specified cause",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q436.00",
            "description": "Fetal and neonatal jaundice, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q436000",
            "description": "Icterus neonatorum, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q436100",
            "description": "Transient neonatal hyperbilirubinaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q436200",
            "description": "Newborn physiological jaundice NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q436z00",
            "description": "Unspecified fetal or neonatal jaundice NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q437.00",
            "description": "Kernicterus not due to isoimmunisation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q437000",
            "description": "Bilirubin encephalopathy",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q437z00",
            "description": "Kernicterus of newborn NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Q43z.00",
            "description": "Perinatal jaundice NOS",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Qyu5800",
            "description": "[X]Neonat jaun due/drg,toxn transmit frm mother/given newbrn",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Qyu5900",
            "description": "[X]Neonatal jaundice due/other specifd excessive haemolysis",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Qyu5A00",
            "description": "[X]Neonatal jaundice from other+unspcf hepatocellular damage",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Qyu5B00",
            "description": "[X]Neonatal jaundice from other specified causes",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE1f4",
            "description": "Other specified delayed conjugation causing neonatal jaundice",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/bayp-kd57",
    "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": 9464,
        "version_name": "Neonatal jaundice (excl haemolytic dz of the newborn)",
        "version_date": "2026-06-08T20:13:28.776502Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]