[
  {
    "phenotype_id": "PH2618",
    "phenotype_version_id": 6462,
    "name": "Genetic syndrome related diabetes 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 `GENETSYNDM_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": "2026-01-26T22:32:11.037735Z",
    "author": "NHSD Primary Care Domain Refsets",
    "collections": [
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      },
      {
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    ],
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    "organisation": {
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      "slug": "opensafely",
      "name": "OpenSAFELY"
    },
    "world_access": 1,
    "updated": "2026-01-26T22:32:13.280294Z",
    "references": [],
    "signed_off": [],
    "methodology": "",
    "coding_system": [
      {
        "name": "SNOMED  CT codes",
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      }
    ],
    "open_codelist_id": "nhsd-primary-care-domain-refsets/genetsyndm_cod",
    "source_reference": "https://www.opencodelists.org/codelist/nhsd-primary-care-domain-refsets/genetsyndm_cod/20250912",
    "concept_information": [
      {
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        "concept_version_id": 14124,
        "concept_name": "nhsd-primary-care-domain-refsets/genetsyndm_cod/20250912",
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          "name": "SNOMED  CT codes",
          "description": "SNOMED CT codes"
        },
        "phenotype_id": "PH2618",
        "phenotype_version_id": 6462,
        "phenotype_name": "Genetic syndrome related diabetes codes",
        "code_attribute_header": [],
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          {
            "code": "112991000000101",
            "description": "Lipoatrophic diabetes mellitus without complication",
            "attributes": null
          },
          {
            "code": "127012008",
            "description": "Lipoatrophic diabetes",
            "attributes": null
          },
          {
            "code": "1285518004",
            "description": "Wolfram syndrome type 1",
            "attributes": null
          },
          {
            "code": "1285519007",
            "description": "Wolfram syndrome type 2",
            "attributes": null
          },
          {
            "code": "20678000",
            "description": "Extreme insulin resistance with acanthosis nigricans, hirsutism AND autoantibodies to the insulin receptors",
            "attributes": null
          },
          {
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            "description": "Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus",
            "attributes": null
          },
          {
            "code": "237612000",
            "description": "Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction",
            "attributes": null
          },
          {
            "code": "237616002",
            "description": "Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities",
            "attributes": null
          },
          {
            "code": "237617006",
            "description": "Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness",
            "attributes": null
          },
          {
            "code": "237619009",
            "description": "Maternally inherited diabetes and deafness",
            "attributes": null
          },
          {
            "code": "24203005",
            "description": "Extreme insulin resistance with acanthosis nigricans, hirsutism AND abnormal insulin receptors",
            "attributes": null
          },
          {
            "code": "33559001",
            "description": "Pineal hyperplasia AND diabetes mellitus syndrome",
            "attributes": null
          },
          {
            "code": "54181000",
            "description": "Diabetes-nephrosis syndrome",
            "attributes": null
          },
          {
            "code": "5969009",
            "description": "Diabetes mellitus associated with genetic syndrome",
            "attributes": null
          },
          {
            "code": "70694009",
            "description": "Wolfram syndrome",
            "attributes": null
          },
          {
            "code": "715439000",
            "description": "Familial partial lipodystrophy type 2",
            "attributes": null
          },
          {
            "code": "720519003",
            "description": "Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome",
            "attributes": null
          },
          {
            "code": "721973006",
            "description": "Lipodystrophy, intellectual disability, deafness syndrome",
            "attributes": null
          },
          {
            "code": "722206009",
            "description": "Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome",
            "attributes": null
          },
          {
            "code": "722454003",
            "description": "Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome",
            "attributes": null
          },
          {
            "code": "724067006",
            "description": "Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome",
            "attributes": null
          },
          {
            "code": "734022008",
            "description": "Wolfram-like syndrome",
            "attributes": null
          },
          {
            "code": "782755007",
            "description": "Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome",
            "attributes": null
          },
          {
            "code": "783722008",
            "description": "Myopathy and diabetes mellitus",
            "attributes": null
          },
          {
            "code": "816067005",
            "description": "Diabetes, hypogonadism, deafness, intellectual disability syndrome",
            "attributes": null
          },
          {
            "code": "91352004",
            "description": "Diabetes mellitus due to structurally abnormal insulin",
            "attributes": null
          }
        ]
      }
    ],
    "coding_system_release": "",
    "open_codelist_version_id": "11adcdeb",
    "open_codelist_version_tag": "20250912",
    "status": 1,
    "doi": "https://doi.org/10.48533/q4ed-ah34",
    "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": 6462,
        "version_name": "Genetic syndrome related diabetes codes",
        "version_date": "2026-01-26T22:32:13.288388Z",
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        "version_id": 6461,
        "version_name": "Genetic syndrome related diabetes codes",
        "version_date": "2026-01-26T22:32:12.216965Z",
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        "version_name": "Genetic syndrome related diabetes codes",
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]