[
  {
    "phenotype_id": "PH933",
    "phenotype_version_id": 4050,
    "name": "Autism Spectrum Disorder (ASD)",
    "definition": "Autism spectrum disorder (ASD) refers to any one of a group of disorders with an onset typically occurring during the preschool years and characterized by difficulties with social communication and social interaction and restricted and repetitive patterns in behaviours, interests, and activities. The term “spectrum” is used because of the heterogeneity in the presentation and severity of ASD symptoms, as well as in the skills and level of functioning of individuals who have ASD.\n\n# ICD-10 and Read code definitionsdefinition\n\n\nThese definitions include codes such as childhood disintegrative disorder, pervasive development disorder, and Rett’s and Asperger’s syndromes. Suspected autism was also included, as it was found to be strongly correlated with confirmed autism. This definition has been previously validated and published (Underwood et al, 2022).\n\n# SNOMED CT definition\n\n\nThis definition has been created from mapped Read codes and ICD-10 definitions, as well as an additional exploration of SNOMED CT codes. It excludes non-specific codes of neurodevelopmental disorder.\n\n__Warning: The SNOMED CT definition have not undergone validation yet.__\n\n# References\n\n[Underwood, J. F., DelPozo-Banos, M., Frizzati, A., John, A., & Hall, J. (2022).](https://doi.org/10.1177/13623613211059674) Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK: An e-cohort study. Autism, 26(6), 1499–1508.",
    "implementation": "",
    "publications": [
      {
        "doi": "10.1177/13623613211059674",
        "details": "Underwood, J. F., DelPozo-Banos, M., Frizzati, A., John, A., & Hall, J. (2022). Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK: An e-cohort study. Autism, 26(6), 1499–1508. https://doi.org/10.1177/13623613211059674"
      }
    ],
    "validation": "None",
    "citation_requirements": "Underwood, J. F., DelPozo-Banos, M., Frizzati, A., John, A., & Hall, J. (2022). Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK: An e-cohort study. Autism, 26(6), 1499–1508.",
    "created": "2022-05-05T08:18:31.720834Z",
    "author": "Underwood, J. F., DelPozo-Banos, 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": {
      "id": 2,
      "slug": "adp",
      "name": "ADP"
    },
    "world_access": 2,
    "updated": "2024-07-22T13:46:41.618356Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "ontology": null,
    "phenoflowid": null,
    "data_sources": [
      {
        "name": "Welsh Longitudinal General Practice Dataset (WLGP) - Welsh Primary Care",
        "value": 502,
        "uid": "33fc3ffd-aa4c-4a16-a32f-0c900aaea3d2",
        "url": "https://healthdatagateway.org/en/dataset/355",
        "datasource_id": 355
      },
      {
        "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
      }
    ],
    "coding_system": [
      {
        "name": "SNOMED  CT codes",
        "value": 9
      },
      {
        "name": "ICD10 codes",
        "value": 4
      },
      {
        "name": "Read codes v2",
        "value": 5
      }
    ],
    "event_date_range": "",
    "concept_information": [
      {
        "concept_id": 2709,
        "concept_version_id": 11029,
        "concept_name": "Autism Spectrum Disorder (ASD)",
        "coding_system": {
          "id": 5,
          "name": "Read codes v2",
          "description": "Read codes v2"
        },
        "phenotype_id": "PH933",
        "phenotype_version_id": 4050,
        "phenotype_name": "Autism Spectrum Disorder (ASD)",
        "code_attribute_header": null,
        "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": []
          }
        ]
      },
      {
        "concept_id": 2930,
        "concept_version_id": 11030,
        "concept_name": "Autism Spectrum Disorder (ASD)",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH933",
        "phenotype_version_id": 4050,
        "phenotype_name": "Autism Spectrum Disorder (ASD)",
        "code_attribute_header": null,
        "codes": [
          {
            "code": "F84.0",
            "description": "Childhood autism",
            "attributes": null
          },
          {
            "code": "F84.1",
            "description": "Atypical autism",
            "attributes": null
          },
          {
            "code": "F84.2",
            "description": "Rett’s syndrome",
            "attributes": null
          },
          {
            "code": "F84.3",
            "description": "Other childhood disintegrative disorder",
            "attributes": null
          },
          {
            "code": "F84.4",
            "description": "Overactive disorder associated with mental retardation and stereotyped movements",
            "attributes": null
          },
          {
            "code": "F84.5",
            "description": "Asperger’s syndrome",
            "attributes": null
          },
          {
            "code": "F84.8",
            "description": "Other pervasive developmental disorders",
            "attributes": null
          },
          {
            "code": "F84.9",
            "description": "Pervasive developmental disorders, unspecified",
            "attributes": null
          }
        ]
      },
      {
        "concept_id": 3688,
        "concept_version_id": 11031,
        "concept_name": "Autism Spectrum Disorder (ASD)",
        "coding_system": {
          "id": 9,
          "name": "SNOMED  CT codes",
          "description": "SNOMED CT codes"
        },
        "phenotype_id": "PH933",
        "phenotype_version_id": 4050,
        "phenotype_name": "Autism Spectrum Disorder (ASD)",
        "code_attribute_header": null,
        "codes": [
          {
            "code": "1065881000000100",
            "description": "Pre-school Autism Communication Therapy (regime/therapy)",
            "attributes": null
          },
          {
            "code": "1260362002",
            "description": "Dystonia due to Rett syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "154878007",
            "description": "Childhood autism (disorder)",
            "attributes": null
          },
          {
            "code": "154879004",
            "description": "Asperger syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "191688000",
            "description": "Childhood autism (disorder)",
            "attributes": null
          },
          {
            "code": "191689008",
            "description": "Active infantile autism (disorder)",
            "attributes": null
          },
          {
            "code": "191690004",
            "description": "Residual infantile autism (disorder)",
            "attributes": null
          },
          {
            "code": "191691000",
            "description": "Infantile autism NOS (disorder)",
            "attributes": null
          },
          {
            "code": "192580000",
            "description": "Autistic spectrum disorder (disorder)",
            "attributes": null
          },
          {
            "code": "192581001",
            "description": "Childhood autism (disorder)",
            "attributes": null
          },
          {
            "code": "192582008",
            "description": "Atypical autism (disorder)",
            "attributes": null
          },
          {
            "code": "192583003",
            "description": "Rett syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "192584009",
            "description": "[X] Childhood disintegrative disorder: [other] or [dementia infantalis (including disintegrative psychosis and Heller's syndrome and symbiotic psychosis)] (disorder)",
            "attributes": null
          },
          {
            "code": "192586006",
            "description": "Asperger syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "192587002",
            "description": "[X]Other pervasive developmental disorders (disorder)",
            "attributes": null
          },
          {
            "code": "192588007",
            "description": "[X]Pervasive developmental disorder, unspecified (disorder)",
            "attributes": null
          },
          {
            "code": "229710003",
            "description": "Autistic spectrum disorder (disorder)",
            "attributes": null
          },
          {
            "code": "231536004",
            "description": "Atypical autism (disorder)",
            "attributes": null
          },
          {
            "code": "23560001",
            "description": "Asperger's disorder (disorder)",
            "attributes": null
          },
          {
            "code": "268740007",
            "description": "[X]Other childhood disintegrative disorder (disorder)",
            "attributes": null
          },
          {
            "code": "271450003",
            "description": "Childhood autism (disorder)",
            "attributes": null
          },
          {
            "code": "35919005",
            "description": "Pervasive developmental disorder (disorder)",
            "attributes": null
          },
          {
            "code": "367103007",
            "description": "Autistic spectrum disorder (disorder)",
            "attributes": null
          },
          {
            "code": "373618009",
            "description": "Autistic spectrum disorder with isolated skills (disorder)",
            "attributes": null
          },
          {
            "code": "38763009",
            "description": "Autistic disorder (disorder)",
            "attributes": null
          },
          {
            "code": "389987009",
            "description": "Atypical autism (disorder)",
            "attributes": null
          },
          {
            "code": "39501000000107",
            "description": "Suspected autism",
            "attributes": null
          },
          {
            "code": "39951000119105",
            "description": "Pervasive developmental disorder of residual state (disorder)",
            "attributes": null
          },
          {
            "code": "401204006",
            "description": "Suspected autism (situation)",
            "attributes": null
          },
          {
            "code": "408856003",
            "description": "Autistic disorder (disorder)",
            "attributes": null
          },
          {
            "code": "408857007",
            "description": "Infantile autism (disorder)",
            "attributes": null
          },
          {
            "code": "41761000000103",
            "description": "Suspected autism",
            "attributes": null
          },
          {
            "code": "424971000000100",
            "description": "[X]Pervasive developmental disorder, unspecified (disorder)",
            "attributes": null
          },
          {
            "code": "432091002",
            "description": "Savant syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "43614003",
            "description": "Autistic disorder of childhood onset (disorder)",
            "attributes": null
          },
          {
            "code": "442314000",
            "description": "Active but odd autism (disorder)",
            "attributes": null
          },
          {
            "code": "44791000000106",
            "description": "Suspected autism (context-dependent category)",
            "attributes": null
          },
          {
            "code": "462171000000104",
            "description": "[X]Other pervasive developmental disorders (disorder)",
            "attributes": null
          },
          {
            "code": "46731000000100",
            "description": "Suspected autism",
            "attributes": null
          },
          {
            "code": "470961000000100",
            "description": "[X] Childhood disintegrative disorder: [other] or [dementia infantalis (including disintegrative psychosis and Heller's syndrome and symbiotic psychosis)] (disorder)",
            "attributes": null
          },
          {
            "code": "47671000000105",
            "description": "Suspected autism",
            "attributes": null
          },
          {
            "code": "621221000000105",
            "description": "Infantile autism NOS (disorder)",
            "attributes": null
          },
          {
            "code": "621231000000107",
            "description": "Disintegrative psychosis NOS (disorder)",
            "attributes": null
          },
          {
            "code": "68618008",
            "description": "Rett syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "702732007",
            "description": "High-functioning autism (disorder)",
            "attributes": null
          },
          {
            "code": "708037001",
            "description": "Residual Asperger's disorder (disorder)",
            "attributes": null
          },
          {
            "code": "718393002",
            "description": "Atypical Rett syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "71961003",
            "description": "Childhood disintegrative disorder (disorder)",
            "attributes": null
          },
          {
            "code": "733623005",
            "description": "Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "770790004",
            "description": "Developmental delay with autism spectrum disorder and gait instability (disorder)",
            "attributes": null
          },
          {
            "code": "771448004",
            "description": "Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)",
            "attributes": null
          },
          {
            "code": "771512003",
            "description": "Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency (disorder)",
            "attributes": null
          },
          {
            "code": "870260008",
            "description": "Pervasive developmental disorder with marked impairment of functional language with loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870262000",
            "description": "Pervasive developmental disorder with disorder of intellectual development without loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870263005",
            "description": "Pervasive developmental disorder with impairment of functional language (disorder)",
            "attributes": null
          },
          {
            "code": "870264004",
            "description": "Pervasive developmental disorder with disorder of intellectual development and pervasive impairment of functional language without loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870265003",
            "description": "Pervasive developmental disorder with disorder of intellectual development with loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870266002",
            "description": "Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language with loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870267006",
            "description": "Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870268001",
            "description": "Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language without loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870269009",
            "description": "Pervasive developmental disorder with disorder of intellectual development and absence of functional language with loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870280009",
            "description": "Pervasive developmental disorder with severe impairment of functional language with loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870282001",
            "description": "Pervasive developmental disorder with severe impairment of functional language without loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870304004",
            "description": "Pervasive developmental disorder with complete impairment of functional language without loss of previously acquired skills (disorder)",
            "attributes": null
          },
          {
            "code": "870306002",
            "description": "Pervasive developmental disorder with complete impairment of functional language (disorder)",
            "attributes": null
          },
          {
            "code": "870307006",
            "description": "Pervasive developmental disorder with abscence of functional language (disorder)",
            "attributes": null
          },
          {
            "code": "870308001",
            "description": "Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder)",
            "attributes": null
          }
        ]
      }
    ],
    "status": 1,
    "doi": null,
    "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,
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      },
      {
        "version_id": 3523,
        "version_name": "Autism Spectrum Disorder (ASD)",
        "version_date": "2024-07-22T13:46:41.632028Z",
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      },
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        "version_name": "Autism Spectrum Disorder (ASD)",
        "version_date": "2023-09-20T14:55:58.169274Z",
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      },
      {
        "version_id": 1945,
        "version_name": "Autism Spectrum Disorder (ASD) Primary care",
        "version_date": "2022-05-05T08:18:31.748478Z",
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  }
]