[
  {
    "phenotype_id": "PH2589",
    "phenotype_version_id": 6366,
    "name": "Genetically proven familial hypercholesterolaemia codes",
    "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\nTaken from the `FHYPGEN_COD` refset published by NHSD. Contains public sector information licensed under the UK Open Government Licence v3\\.0 (https://www.nationalarchives.gov.uk/doc/open\\-government\\-licence/version/3/).\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": "2026-01-26T22:26:45.633871Z",
    "author": "NHSD Primary Care Domain Refsets",
    "collections": [
      {
        "name": "OpenCodelist",
        "value": 31
      },
      {
        "name": "Phenotype Library",
        "value": 18
      }
    ],
    "tags": null,
    "organisation": {
      "id": 1,
      "slug": "opensafely",
      "name": "OpenSAFELY"
    },
    "world_access": 1,
    "updated": "2026-01-26T22:26:50.163807Z",
    "references": [
      {
        "url": "https://digital.nhs.uk/data-and-information/data-collections-and-data-sets/data-collections/quality-and-outcomes-framework-qof/quality-and-outcome-framework-qof-business-rules/primary-care-domain-reference-set-portal",
        "title": "Primary Care Domain Reference Set Portal"
      }
    ],
    "signed_off": [],
    "methodology": "",
    "coding_system": [
      {
        "name": "SNOMED  CT codes",
        "value": 9
      }
    ],
    "open_codelist_id": "nhsd-primary-care-domain-refsets/fhypgen_cod",
    "source_reference": "https://www.opencodelists.org/codelist/nhsd-primary-care-domain-refsets/fhypgen_cod/20250912",
    "concept_information": [
      {
        "concept_id": 6543,
        "concept_version_id": 14028,
        "concept_name": "nhsd-primary-care-domain-refsets/fhypgen_cod/20250912",
        "coding_system": {
          "id": 9,
          "name": "SNOMED  CT codes",
          "description": "SNOMED CT codes"
        },
        "phenotype_id": "PH2589",
        "phenotype_version_id": 6366,
        "phenotype_name": "Genetically proven familial hypercholesterolaemia codes",
        "code_attribute_header": [],
        "codes": [
          {
            "code": "238078005",
            "description": "Familial hypercholesterolemia - homozygous",
            "attributes": null
          },
          {
            "code": "238079002",
            "description": "Familial hypercholesterolemia - heterozygous",
            "attributes": null
          },
          {
            "code": "238081000",
            "description": "Familial defective apolipoprotein B-100",
            "attributes": null
          },
          {
            "code": "403829002",
            "description": "Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation",
            "attributes": null
          },
          {
            "code": "403830007",
            "description": "Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation",
            "attributes": null
          },
          {
            "code": "403831006",
            "description": "Familial hypercholesterolemia due to genetic defect of apolipoprotein B",
            "attributes": null
          },
          {
            "code": "444032005",
            "description": "Detection of mutation in apolipoprotein B-100 gene",
            "attributes": null
          },
          {
            "code": "444078002",
            "description": "Detection of Arg3527Gln mutation in apolipoprotein B-100 gene",
            "attributes": null
          },
          {
            "code": "444226008",
            "description": "Detection of mutation in low density lipoprotein receptor gene",
            "attributes": null
          },
          {
            "code": "767133009",
            "description": "Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations",
            "attributes": null
          },
          {
            "code": "773726000",
            "description": "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency",
            "attributes": null
          },
          {
            "code": "925161000000105",
            "description": "Apolipoprotein B-100 single mutation genetic test",
            "attributes": null
          },
          {
            "code": "925171000000103",
            "description": "Apolipoprotein B-100 targeted genetic test",
            "attributes": null
          },
          {
            "code": "925181000000101",
            "description": "Low density lipoprotein receptor linkage genetic test",
            "attributes": null
          },
          {
            "code": "925191000000104",
            "description": "Low density lipoprotein receptor single mutation genetic test",
            "attributes": null
          },
          {
            "code": "925201000000102",
            "description": "Low density lipoprotein receptor comprehensive genetic test",
            "attributes": null
          },
          {
            "code": "925211000000100",
            "description": "Familial hypercholesterolemia targeted genetic test",
            "attributes": null
          },
          {
            "code": "925221000000106",
            "description": "Familial hypercholesterolemia comprehensive genetic test",
            "attributes": null
          }
        ]
      }
    ],
    "coding_system_release": "",
    "open_codelist_version_id": "42a75b7d",
    "open_codelist_version_tag": "20250912",
    "status": 1,
    "doi": "https://doi.org/10.48533/d1x7-gm61",
    "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": 6366,
        "version_name": "Genetically proven familial hypercholesterolaemia codes",
        "version_date": "2026-01-26T22:26:50.176404Z",
        "is_published": true,
        "is_latest": true
      },
      {
        "version_id": 6365,
        "version_name": "Genetically proven familial hypercholesterolaemia codes",
        "version_date": "2026-01-26T22:26:49.109937Z",
        "is_published": true,
        "is_latest": false
      },
      {
        "version_id": 6364,
        "version_name": "Genetically proven familial hypercholesterolaemia codes",
        "version_date": "2026-01-26T22:26:47.953887Z",
        "is_published": true,
        "is_latest": false
      },
      {
        "version_id": 6363,
        "version_name": "Genetically proven familial hypercholesterolaemia codes",
        "version_date": "2026-01-26T22:26:46.807245Z",
        "is_published": true,
        "is_latest": false
      },
      {
        "version_id": 6362,
        "version_name": "Genetically proven familial hypercholesterolaemia codes",
        "version_date": "2026-01-26T22:26:45.645214Z",
        "is_published": true,
        "is_latest": false
      }
    ]
  }
]