[
  {
    "phenotype_id": "PH3411",
    "phenotype_version_id": 8438,
    "name": "Down syndrome",
    "definition": "This codelist was taken from [OpenCodelists](https://www.opencodelists.org/), created by [OpenSAFELY](https://www.opensafely.org/). We recommend viewing this Phenotype on the OpenCodelist website to view the most recent version.\n\n\nDiagnoses of Down syndrome\n\n\n© University of Oxford for the Bennett Institute for Applied Data Science 2025\\. This work may be copied freely for non\\-commercial research and study.\n\n",
    "implementation": null,
    "publications": null,
    "validation": null,
    "citation_requirements": null,
    "created": "2026-01-26T23:15:53.936498Z",
    "author": "OpenSAFELY",
    "collections": [
      {
        "name": "OpenCodelist",
        "value": 31
      },
      {
        "name": "Phenotype Library",
        "value": 18
      }
    ],
    "tags": null,
    "organisation": {
      "id": 1,
      "slug": "opensafely",
      "name": "OpenSAFELY"
    },
    "world_access": 1,
    "updated": "2026-01-26T23:15:53.930294Z",
    "references": [],
    "signed_off": [],
    "methodology": "Searched for \"down\", \"trisomy\", and \"mongol\" (as historical codes may use this term).\n\n\nRemoved unrelated codes (e.g. \"falling down\"), screening tests, family history codes, and suspected Down syndrome.\nSuspected Down syndrome was not included, as this codelist is aiming for a codelist for adults with high positive predictive value.\nPositive antenatal screening tests were not included, as these may be recorded in the mother's record rather than the child's.\nDiscussed mosaicism with Hannah Kuper at LSHTM \\- agreed to include, since it is unlikely to be diagnosed and recorded if the individual has experienced no clinical consequences.\n\n\nThe codelist was restricted to diagnoses, therefore the following relevant codes were not included, since they were not considered sufficient standalone evidence of Down syndrome:\n• Down's facies(X7694\\)\n• Mongoloid tilt(X75ew)\n• Downs syndrome \\& dementia checklist(Y2935\\)\n• Down's syndrome body mass index centile(Xabdn)\n• Down's syndrome height centile(Xabdt)\n• Down's syndrome weight centile(Xabdv)\n\n\nCompared to the wider codelist in https://codelists.opensafely.org/codelist/opensafely/intellectual\\-disability\\-including\\-downs\\-syndrome/2020\\-08\\-27/\nto check for any omissions, but Down syndrome codelist was consistent with this.\n\n\nIncluded codes were kindly reviewed by Hannah Kuper.\n\n",
    "coding_system": [
      {
        "name": "Read codes v3",
        "value": 6
      }
    ],
    "open_codelist_id": "opensafely/down-syndrome",
    "source_reference": "https://www.opencodelists.org/codelist/opensafely/down-syndrome/15832db6",
    "concept_information": [
      {
        "concept_id": 8615,
        "concept_version_id": 16100,
        "concept_name": "opensafely/down-syndrome/15832db6",
        "coding_system": {
          "id": 6,
          "name": "Read codes v3",
          "description": "Read codes v3"
        },
        "phenotype_id": "PH3411",
        "phenotype_version_id": 8438,
        "phenotype_name": "Down syndrome",
        "code_attribute_header": [],
        "codes": [
          {
            "code": "PJ0..",
            "description": "(Down's trisom 21) or (mongol) or (trisom 21) or (trisom 22)",
            "attributes": null
          },
          {
            "code": "PJ00.",
            "description": "Trisomy 21- meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ01.",
            "description": "Trisomy 21- mitotic nondisjunction mosaicism",
            "attributes": null
          },
          {
            "code": "X78Ek",
            "description": "Down's syndrome NOS",
            "attributes": null
          },
          {
            "code": "X78El",
            "description": "Partial trisomy 21 in Down's syndrome",
            "attributes": null
          },
          {
            "code": "XE1MZ",
            "description": "Down's syndrome",
            "attributes": null
          }
        ]
      }
    ],
    "coding_system_release": "",
    "open_codelist_version_id": "15832db6",
    "open_codelist_version_tag": "",
    "status": 1,
    "doi": "https://doi.org/10.48533/ekk8-8s85",
    "is_deleted": false,
    "publish_status": 2,
    "owner": "ieuan.scanlon",
    "template": {
      "id": 3,
      "name": "OpenCodelists Phenotype",
      "description": "OpenSafely's OpenCodelist Phenotype, visit https://www.opencodelists.org/ to learn more",
      "version_id": 1
    },
    "versions": [
      {
        "version_id": 8438,
        "version_name": "Down syndrome",
        "version_date": "2026-01-26T23:15:53.946058Z",
        "is_published": true,
        "is_latest": true
      }
    ]
  }
]