[
  {
    "phenotype_id": "PH4233",
    "phenotype_version_id": 9451,
    "name": "Myelodysplastic syndromes",
    "definition": "Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages.\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": "2026-06-08T20:12:51.398003Z",
    "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": "2026-06-08T20:12:51.392183Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "trials": null,
    "ontology": [
      {
        "name": "Myelodysplastic neoplasm (morphologic abnormality)",
        "value": 736168
      }
    ],
    "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": 10440,
        "concept_version_id": 17925,
        "concept_name": "Cancer code, self-reported",
        "coding_system": {
          "id": 12,
          "name": "UKBioBank codes",
          "description": "UKBioBank codes"
        },
        "phenotype_id": "PH4233",
        "phenotype_version_id": 9451,
        "phenotype_name": "Myelodysplastic syndromes",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "1051",
            "description": "myelofibrosis or myelodysplasia",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10441,
        "concept_version_id": 17926,
        "concept_name": "Diagnoses - main ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4233",
        "phenotype_version_id": 9451,
        "phenotype_name": "Myelodysplastic syndromes",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D46",
            "description": "Myelodysplastic syndromes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10442,
        "concept_version_id": 17927,
        "concept_name": "Diagnoses - secondary ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4233",
        "phenotype_version_id": 9451,
        "phenotype_name": "Myelodysplastic syndromes",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D46",
            "description": "Myelodysplastic syndromes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10443,
        "concept_version_id": 17928,
        "concept_name": "Underlying (primary) cause of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4233",
        "phenotype_version_id": 9451,
        "phenotype_name": "Myelodysplastic syndromes",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D46",
            "description": "Myelodysplastic syndromes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10444,
        "concept_version_id": 17929,
        "concept_name": "Contributory (secondary) causes of death: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4233",
        "phenotype_version_id": 9451,
        "phenotype_name": "Myelodysplastic syndromes",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D46",
            "description": "Myelodysplastic syndromes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10445,
        "concept_version_id": 17930,
        "concept_name": "GP clinical event records",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH4233",
        "phenotype_version_id": 9451,
        "phenotype_name": "Myelodysplastic syndromes",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "7Q09700",
            "description": "Myelodysplastic syndrome drugs Band 1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937000",
            "description": "Refractory anaemia without sideroblasts, so stated",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937100",
            "description": "Refractory anaemia with sideroblasts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937.14",
            "description": "Myelodysplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937200",
            "description": "Refractory anaemia with excess of blasts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937300",
            "description": "Refractory anaemia with excess of blasts with transformation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937600",
            "description": "Refractory anaemia without ring sideroblasts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937700",
            "description": "Refractory anaemia with ring sideroblasts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937800",
            "description": "Refractory anaemia with multilineage dysplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937900",
            "description": "5Q minus syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937911",
            "description": "Myelodysplastic syndrome isolated del(5q) chromosomal abnorm",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937W00",
            "description": "Myelodysplastic syndrome, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937W11",
            "description": "Myelodysplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "B937X00",
            "description": "Refractory anaemia, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBmA.00",
            "description": "[M] Refractory anaemia with sideroblasts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBmB.00",
            "description": "[M]Refractory anaemia+excess of blasts with transformation",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBmL.00",
            "description": "[M] Refractory anaemia with excess of blasts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "BBv..00",
            "description": "[M]Myelodysplastic syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "ByuHD00",
            "description": "[X]Myelodysplastic syndrome, unspecified",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "D213.00",
            "description": "Refractory Anaemia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "Xa0Sh",
            "description": "5Q minus syndrome",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaBC5",
            "description": "[M] Refractory anaemia with excess of blasts",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaXJF",
            "description": "Myelodysplastic syndrome drugs Band 1",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XaYv2",
            "description": "Refractory anaemia with multilineage dysplasia",
            "attributes": {
              "type": "any"
            }
          },
          {
            "code": "XE1wQ",
            "description": "Neoplasm of uncertain behaviour of other lymphatic and haematopoietic tissue",
            "attributes": {
              "type": "any"
            }
          }
        ]
      },
      {
        "concept_id": 10446,
        "concept_version_id": 17931,
        "concept_name": "Type of cancer: ICD10",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH4233",
        "phenotype_version_id": 9451,
        "phenotype_name": "Myelodysplastic syndromes",
        "code_attribute_header": [
          "type"
        ],
        "codes": [
          {
            "code": "D46",
            "description": "Myelodysplastic syndromes",
            "attributes": {
              "type": "any"
            }
          }
        ]
      }
    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/3knd-3p97",
    "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": 9451,
        "version_name": "Myelodysplastic syndromes",
        "version_date": "2026-06-08T20:12:51.410073Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]