[
  {
    "phenotype_id": "PH933",
    "phenotype_version_id": 1945,
    "name": "Autism Spectrum Disorder (ASD) Primary care",
    "definition": "Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders that are characterised by difficulties in communication, social interaction, as well as restricted interests and resistance to change (Underwood et al, 2019). These codes have been taken from previously validated code lists (Underwood et al, 2021). Pathological demand avoidance (Eu846) and Rett Syndrome (Eu842) have been excluded from this list based on clinical (Prof Ann John) and expert (Underwood) advice and due to the fact they are not included in the DSM or ICD-10. ",
    "implementation": "",
    "publications": [
      {
        "doi": "10.1177/13623613211059674",
        "details": "Underwood JFG, Del Pozo Baos M, Frizzati A, John A, Hall J (2021).  Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK - an e-cohort study. Rates of Major Psychiatric Disorders in ASD DOI:10.1177/13623613211059674"
      },
      {
        "doi": null,
        "details": "John, A., Friedmann, Y., Delpozo-Banos, M., Frizzati, A., Ford,  T., & Thapar, A. 2022. “Association of School Absence and Exclusion with Recorded Neurodevelopmental Disorders, Mental Disorders, or Self-Harm: A Nationwide, Retrospective, Electronic Cohort Study of Children and Young People in Wales, UK."
      },
      {
        "doi": "10.1192/bjp.2019.30",
        "details": "Underwood, J., Kendall, K., Berrett, J., Lewis, C., Anney, R., Van den Bree, M., & Hall, J. (2019). Autism spectrum disorder diagnosis in adults: Phenotype and genotype findings from a clinically derived cohort. British Journal of Psychiatry, 215(5), 647-653. doi:10.1192/bjp.2019.30"
      },
      {
        "doi": "10.1177/13623613211059674",
        "details": "Main reference link: https://journals.sagepub.com/doi/full/10.1177/13623613211059674"
      }
    ],
    "validation": "",
    "citation_requirements": "",
    "created": "2022-05-05T08:18:31.720834Z",
    "author": "Underwood JFG, Del Pozo Baños M, Frizzati A, John A, Hall J ",
    "collections": [
      {
        "name": "Adolescent Data Platform (ADP)",
        "value": 23
      },
      {
        "name": "DATAMIND",
        "value": 27
      },
      {
        "name": "Phenotype Library",
        "value": 18
      }
    ],
    "tags": null,
    "organisation": null,
    "world_access": 2,
    "updated": "2022-05-05T08:18:31.720859Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "ontology": null,
    "phenoflowid": "",
    "data_sources": [
      {
        "name": "Welsh Longitudinal General Practice Dataset (WLGP) - Welsh Primary Care",
        "value": 35,
        "uid": "33fc3ffd-aa4c-4a16-a32f-0c900aaea3d2",
        "url": "https://healthdatagateway.org/en/dataset/355",
        "datasource_id": 355
      }
    ],
    "coding_system": [
      {
        "name": "Read codes v2",
        "value": 5
      }
    ],
    "event_date_range": "",
    "concept_information": [
      {
        "concept_id": 2709,
        "concept_version_id": 6834,
        "concept_name": "Autism Spectrum Disorder (ASD) - Primary care",
        "coding_system": {
          "id": 5,
          "name": "Read codes v2",
          "description": "Read codes v2"
        },
        "phenotype_id": "PH933",
        "phenotype_version_id": 1945,
        "phenotype_name": "Autism Spectrum Disorder (ASD) Primary care",
        "code_attribute_header": [],
        "codes": [
          {
            "code": "1J9..",
            "description": "suspected autism",
            "attributes": {}
          },
          {
            "code": "E140.",
            "description": "infantile autism",
            "attributes": {}
          },
          {
            "code": "E1400",
            "description": "infantile autism - active | active infantile autism",
            "attributes": {}
          },
          {
            "code": "E1401",
            "description": "infantile autism - residual | residual infantile autism",
            "attributes": {}
          },
          {
            "code": "E140z",
            "description": "infantile autism nos",
            "attributes": {}
          },
          {
            "code": "Eu840",
            "description": "[x]childhood autism",
            "attributes": {}
          },
          {
            "code": "Eu841",
            "description": "[x]atypical autism",
            "attributes": {}
          },
          {
            "code": "Eu845",
            "description": "[x]asperger's syndrome",
            "attributes": {}
          }
        ]
      }
    ],
    "status": 2,
    "doi": "https://doi.org/10.48533/h2yv-tx65",
    "is_deleted": null,
    "publish_status": 2,
    "owner": "ieuan.scanlon",
    "template": {
      "id": 1,
      "name": "Clinical-Coded Phenotype",
      "description": "Phenotype definitions that are based on lists of clinical codes, or algorithms using clinical codes.",
      "version_id": 1
    },
    "versions": [
      {
        "version_id": 4050,
        "version_name": "Autism Spectrum Disorder (ASD)",
        "version_date": "2025-07-02T10:40:44.467135Z",
        "is_published": true,
        "is_latest": true
      },
      {
        "version_id": 3523,
        "version_name": "Autism Spectrum Disorder (ASD)",
        "version_date": "2024-07-22T13:46:41.632028Z",
        "is_published": true,
        "is_latest": false
      },
      {
        "version_id": 2449,
        "version_name": "Autism Spectrum Disorder (ASD)",
        "version_date": "2023-09-20T14:55:58.169274Z",
        "is_published": true,
        "is_latest": false
      },
      {
        "version_id": 1945,
        "version_name": "Autism Spectrum Disorder (ASD) Primary care",
        "version_date": "2022-05-05T08:18:31.748478Z",
        "is_published": true,
        "is_latest": false
      }
    ]
  }
]