[
  {
    "phenotype_id": "PH2294",
    "phenotype_version_id": 5370,
    "name": "Rare genetic metabolic and autoimmune disease 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 `C19RGMADIAG_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": "2026-01-26T22:02:46.821921Z",
    "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": "2026-01-26T22:02:55.863372Z",
    "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/c19rgmadiag_cod",
    "source_reference": "https://www.opencodelists.org/codelist/nhsd-primary-care-domain-refsets/c19rgmadiag_cod/20250912",
    "concept_information": [
      {
        "concept_id": 5547,
        "concept_version_id": 13032,
        "concept_name": "nhsd-primary-care-domain-refsets/c19rgmadiag_cod/20250912",
        "coding_system": {
          "id": 9,
          "name": "SNOMED  CT codes",
          "description": "SNOMED CT codes"
        },
        "phenotype_id": "PH2294",
        "phenotype_version_id": 5370,
        "phenotype_name": "Rare genetic metabolic and autoimmune disease codes",
        "code_attribute_header": [],
        "codes": [
          {
            "code": "103078009",
            "description": "Immunodeficiency secondary to trauma",
            "attributes": null
          },
          {
            "code": "103079001",
            "description": "Immunodeficiency caused by corticosteroid",
            "attributes": null
          },
          {
            "code": "103080003",
            "description": "Immunodeficiency due to radiotherapy",
            "attributes": null
          },
          {
            "code": "103081004",
            "description": "Immunodeficiency secondary to chemotherapy",
            "attributes": null
          },
          {
            "code": "106511000119106",
            "description": "Long-term current use of mycophenolate",
            "attributes": null
          },
          {
            "code": "106581000119100",
            "description": "Long-term current use of cyclosporine",
            "attributes": null
          },
          {
            "code": "106631000119102",
            "description": "Long-term current use of infliximab",
            "attributes": null
          },
          {
            "code": "10746341000119109",
            "description": "Acquired immune deficiency syndrome complicating childbirth",
            "attributes": null
          },
          {
            "code": "10759351000119103",
            "description": "Sickle cell anemia in mother complicating childbirth",
            "attributes": null
          },
          {
            "code": "10838971000119103",
            "description": "Immunodeficiency caused by long term therapeutic use of drug",
            "attributes": null
          },
          {
            "code": "111396008",
            "description": "Chédiak-Higashi syndrome",
            "attributes": null
          },
          {
            "code": "111584000",
            "description": "Reticular dysgenesis",
            "attributes": null
          },
          {
            "code": "111585004",
            "description": "Neutropenia associated with autoimmune disease",
            "attributes": null
          },
          {
            "code": "111587007",
            "description": "Severe combined immunodeficiency due to absent interleukin-2 receptor",
            "attributes": null
          },
          {
            "code": "113531000119106",
            "description": "Long term current use of abatacept",
            "attributes": null
          },
          {
            "code": "113541000119102",
            "description": "Long-term current use of rituximab",
            "attributes": null
          },
          {
            "code": "1148692008",
            "description": "Radiation therapy following chemotherapy",
            "attributes": null
          },
          {
            "code": "1153413001",
            "description": "Acute sequestration of spleen due to sickle cell thalassemia with crisis",
            "attributes": null
          },
          {
            "code": "1153415008",
            "description": "Acute sequestration of spleen due to sickle cell hemoglobin C disease with crisis",
            "attributes": null
          },
          {
            "code": "1156505006",
            "description": "External beam radiation therapy using carbon ions",
            "attributes": null
          },
          {
            "code": "1156506007",
            "description": "External beam radiation therapy using photons",
            "attributes": null
          },
          {
            "code": "1156524009",
            "description": "Intensity modulated external beam neutron radiation therapy",
            "attributes": null
          },
          {
            "code": "1156525005",
            "description": "Mixed beam external beam radiation therapy",
            "attributes": null
          },
          {
            "code": "1156526006",
            "description": "Two dimensional external beam radiation therapy",
            "attributes": null
          },
          {
            "code": "1156528007",
            "description": "External beam radiation therapy using particle spot scanning technique",
            "attributes": null
          },
          {
            "code": "1156529004",
            "description": "External beam radiation therapy using particle passive scattering technique",
            "attributes": null
          },
          {
            "code": "11603001",
            "description": "Sickle cell retinopathy",
            "attributes": null
          },
          {
            "code": "1172966001",
            "description": "Multiple carboxylase deficiency",
            "attributes": null
          },
          {
            "code": "1177173001",
            "description": "Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome",
            "attributes": null
          },
          {
            "code": "1179284005",
            "description": "Severe combined immunodeficiency due to linker for activation of T cells deficiency",
            "attributes": null
          },
          {
            "code": "1179285006",
            "description": "Combined immunodeficiency due to moesin deficiency",
            "attributes": null
          },
          {
            "code": "1179286007",
            "description": "Combined immunodeficiency due to GINS complex subunit 1 deficiency",
            "attributes": null
          },
          {
            "code": "1179288008",
            "description": "Combined immunodeficiency due to transferrin receptor deficiency",
            "attributes": null
          },
          {
            "code": "1179300002",
            "description": "B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease",
            "attributes": null
          },
          {
            "code": "1184703009",
            "description": "Periodontitis due to infantile genetic agranulocytosis",
            "attributes": null
          },
          {
            "code": "1186712009",
            "description": "Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency",
            "attributes": null
          },
          {
            "code": "1186714005",
            "description": "Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency",
            "attributes": null
          },
          {
            "code": "1186715006",
            "description": "Combined immunodeficiency due to CD70 deficiency",
            "attributes": null
          },
          {
            "code": "1186965009",
            "description": "Periodontitis exacerbated by cyclical neutropenia",
            "attributes": null
          },
          {
            "code": "1187148008",
            "description": "Periodontitis exacerbated by Chédiak-Higashi syndrome",
            "attributes": null
          },
          {
            "code": "118791000119106",
            "description": "Aplastic anemia caused by antineoplastic agent",
            "attributes": null
          },
          {
            "code": "1197594000",
            "description": "Periodic fever, infantile enterocolitis, autoinflammatory syndrome",
            "attributes": null
          },
          {
            "code": "12240661000119103",
            "description": "Long term systemic steroid user",
            "attributes": null
          },
          {
            "code": "1229940001",
            "description": "Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency",
            "attributes": null
          },
          {
            "code": "1229941002",
            "description": "Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency",
            "attributes": null
          },
          {
            "code": "1229942009",
            "description": "Severe combined immunodeficiency due to coronin 1A deficiency",
            "attributes": null
          },
          {
            "code": "123617004",
            "description": "Fleckmilz",
            "attributes": null
          },
          {
            "code": "123772008",
            "description": "Homozygous hemoglobinopathy",
            "attributes": null
          },
          {
            "code": "123777002",
            "description": "Autoimmune leukopenia",
            "attributes": null
          },
          {
            "code": "1269442001",
            "description": "Baricitinib therapy",
            "attributes": null
          },
          {
            "code": "1269443006",
            "description": "Belantamab mafodotin therapy",
            "attributes": null
          },
          {
            "code": "1269444000",
            "description": "Belatacept therapy",
            "attributes": null
          },
          {
            "code": "127034005",
            "description": "Pancytopenia",
            "attributes": null
          },
          {
            "code": "127040003",
            "description": "Sickle cell-hemoglobin SS disease",
            "attributes": null
          },
          {
            "code": "127041004",
            "description": "Sickle cell-beta-thalassemia",
            "attributes": null
          },
          {
            "code": "127042006",
            "description": "Sickle cell beta plus thalassemia",
            "attributes": null
          },
          {
            "code": "127043001",
            "description": "Sickle cell-beta^0^-thalassemia",
            "attributes": null
          },
          {
            "code": "127044007",
            "description": "Sickle cell-delta beta^0^-thalassemia",
            "attributes": null
          },
          {
            "code": "127045008",
            "description": "Sickle cell anemia with coexistent alpha-thalassemia",
            "attributes": null
          },
          {
            "code": "127047000",
            "description": "Sickle cell-hemoglobin Lepore disease",
            "attributes": null
          },
          {
            "code": "127048005",
            "description": "Sickle cell-Hemoglobin O Arab disease",
            "attributes": null
          },
          {
            "code": "1285021005",
            "description": "Fanconi anemia of complementation group C",
            "attributes": null
          },
          {
            "code": "1285514002",
            "description": "Nonproliferative retinopathy due to sickle cell disease",
            "attributes": null
          },
          {
            "code": "1293264009",
            "description": "Atypical hemolytic uremic syndrome with complement gene abnormality",
            "attributes": null
          },
          {
            "code": "1295181006",
            "description": "Complex multigenic autoinflammatory syndrome",
            "attributes": null
          },
          {
            "code": "1295220004",
            "description": "Atypical hemolytic uremic syndrome with anti-factor H antibodies",
            "attributes": null
          },
          {
            "code": "129640007",
            "description": "Benign granulocytopenia in childhood",
            "attributes": null
          },
          {
            "code": "129641006",
            "description": "Chronic benign neutropenia of childhood",
            "attributes": null
          },
          {
            "code": "1296731001",
            "description": "Atypical Krabbe disease due to saposin A deficiency",
            "attributes": null
          },
          {
            "code": "1296898001",
            "description": "Hereditary arginine vasopressin resistance",
            "attributes": null
          },
          {
            "code": "1296911007",
            "description": "Hereditary arginine vasopressin-related polyuria",
            "attributes": null
          },
          {
            "code": "1297036006",
            "description": "Autosomal recessive agammaglobulinemia",
            "attributes": null
          },
          {
            "code": "13886001",
            "description": "Sickle cell nephropathy",
            "attributes": null
          },
          {
            "code": "140561000119102",
            "description": "Long-term current use of azathioprine",
            "attributes": null
          },
          {
            "code": "15625411000119109",
            "description": "Long-term current use of apremilast",
            "attributes": null
          },
          {
            "code": "15625451000119105",
            "description": "Long-term current use of tofacitinib",
            "attributes": null
          },
          {
            "code": "161626009",
            "description": "History of splenectomy",
            "attributes": null
          },
          {
            "code": "16623961000119100",
            "description": "Pancytopenia caused by immunosuppressant",
            "attributes": null
          },
          {
            "code": "168520004",
            "description": "Radiotherapy for immunosuppression",
            "attributes": null
          },
          {
            "code": "16890821000119107",
            "description": "Long-term current use of ixekizumab",
            "attributes": null
          },
          {
            "code": "169335009",
            "description": "External beam radiotherapy with surgery and chemotherapy",
            "attributes": null
          },
          {
            "code": "169336005",
            "description": "External beam radiation therapy with chemotherapy",
            "attributes": null
          },
          {
            "code": "169401007",
            "description": "Radiochemotherapy for immunosuppression",
            "attributes": null
          },
          {
            "code": "174236121000119109",
            "description": "Long-term current use of baricitinib",
            "attributes": null
          },
          {
            "code": "174778000",
            "description": "Total splenectomy and reimplantation of fragments",
            "attributes": null
          },
          {
            "code": "17604001",
            "description": "Bilateral right-sidedness sequence",
            "attributes": null
          },
          {
            "code": "183005",
            "description": "Autoimmune pancytopenia",
            "attributes": null
          },
          {
            "code": "190993005",
            "description": "Autosomal recessive severe combined immunodeficiency",
            "attributes": null
          },
          {
            "code": "190995003",
            "description": "Thymic aplasia or dysplasia with immunodeficiency",
            "attributes": null
          },
          {
            "code": "190996002",
            "description": "Severe combined immunodeficiency with reticular dysgenesis",
            "attributes": null
          },
          {
            "code": "190997006",
            "description": "Severe combined immunodeficiency with low T- and B-cell numbers",
            "attributes": null
          },
          {
            "code": "190998001",
            "description": "Severe combined immunodeficiency with low or normal B-cell numbers",
            "attributes": null
          },
          {
            "code": "191001007",
            "description": "Major histocompatibility complex class I deficiency",
            "attributes": null
          },
          {
            "code": "191002000",
            "description": "Immunodeficiency by defective expression of major histocompatibility complex class II",
            "attributes": null
          },
          {
            "code": "191013002",
            "description": "Common variable immunodeficiency with autoantibodies to B- or T-cells",
            "attributes": null
          },
          {
            "code": "193370005",
            "description": "Proliferative retinopathy due to sickle cell disease",
            "attributes": null
          },
          {
            "code": "203592006",
            "description": "X-linked severe combined immunodeficiency",
            "attributes": null
          },
          {
            "code": "21527007",
            "description": "Chronic granulomatous disease, type IV",
            "attributes": null
          },
          {
            "code": "22406001",
            "description": "Severe combined immunodeficiency due to absent lymphoid stem cells",
            "attributes": null
          },
          {
            "code": "232033003",
            "description": "Sickle cell-hemoglobin C retinopathy",
            "attributes": null
          },
          {
            "code": "234319005",
            "description": "Splenectomy",
            "attributes": null
          },
          {
            "code": "234391009",
            "description": "Sickle cell anemia with high hemoglobin F",
            "attributes": null
          },
          {
            "code": "234416002",
            "description": "X-linked hypogammaglobulinemia",
            "attributes": null
          },
          {
            "code": "234429002",
            "description": "Chemotactic disorder",
            "attributes": null
          },
          {
            "code": "234511009",
            "description": "Post-splenectomy disorder",
            "attributes": null
          },
          {
            "code": "234512002",
            "description": "Post-splenectomy thrombocytosis",
            "attributes": null
          },
          {
            "code": "234513007",
            "description": "Post-splenectomy leukocytosis",
            "attributes": null
          },
          {
            "code": "234533006",
            "description": "X-linked agammaglobulinemia with growth hormone deficiency",
            "attributes": null
          },
          {
            "code": "234534000",
            "description": "Autosomal agammaglobulinemia with absent B-cells",
            "attributes": null
          },
          {
            "code": "234537007",
            "description": "Autosomal recessive hyperimmunoglobulin M syndrome",
            "attributes": null
          },
          {
            "code": "234547005",
            "description": "Combined immunoglobulin G2 and G4 deficiency",
            "attributes": null
          },
          {
            "code": "234564008",
            "description": "Primary immunoglobulin catabolism abnormality",
            "attributes": null
          },
          {
            "code": "234565009",
            "description": "Immunoglobulin hypercatabolism",
            "attributes": null
          },
          {
            "code": "234566005",
            "description": "Familial immunoglobulin hypercatabolism",
            "attributes": null
          },
          {
            "code": "234570002",
            "description": "Severe combined immunodeficiency with maternofetal engraftment",
            "attributes": null
          },
          {
            "code": "234587000",
            "description": "Neutrophil lactoferrin deficiency",
            "attributes": null
          },
          {
            "code": "234588005",
            "description": "Neutrophil secondary granule deficiency",
            "attributes": null
          },
          {
            "code": "234632005",
            "description": "Immunodeficiency associated with chromosomal abnormality",
            "attributes": null
          },
          {
            "code": "234633000",
            "description": "Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency",
            "attributes": null
          },
          {
            "code": "234634006",
            "description": "Chromosome 18 syndromes and antibody deficiency",
            "attributes": null
          },
          {
            "code": "234635007",
            "description": "Chromosome 22 abnormalities with hypogammaglobulinemia",
            "attributes": null
          },
          {
            "code": "234636008",
            "description": "Monosomy 22 and absence of immunoglobulin A",
            "attributes": null
          },
          {
            "code": "234637004",
            "description": "Deletion of X-chromosome and hypogammaglobulinemia",
            "attributes": null
          },
          {
            "code": "234638009",
            "description": "Microcephaly, normal intelligence and immunodeficiency",
            "attributes": null
          },
          {
            "code": "234639001",
            "description": "Triple X syndrome, epilepsy, and hypogammaglobulinemia",
            "attributes": null
          },
          {
            "code": "234640004",
            "description": "18-p syndrome with associated immunodeficiency",
            "attributes": null
          },
          {
            "code": "234641000",
            "description": "Immunodeficiency associated with multiple organ system abnormalities",
            "attributes": null
          },
          {
            "code": "234642007",
            "description": "Age-related immunodeficiency",
            "attributes": null
          },
          {
            "code": "234645009",
            "description": "Drug-induced immunodeficiency",
            "attributes": null
          },
          {
            "code": "235331000000103",
            "description": "Delivery of oral chemotherapy for neoplasm",
            "attributes": null
          },
          {
            "code": "235391000000102",
            "description": "Delivery of chemotherapy for neoplasm",
            "attributes": null
          },
          {
            "code": "238831000000103",
            "description": "Delivery of exclusively oral chemotherapy for neoplasm",
            "attributes": null
          },
          {
            "code": "238841000000107",
            "description": "Delivery of complex chemotherapy for neoplasm including prolonged infusional treatment at first attendance",
            "attributes": null
          },
          {
            "code": "238851000000105",
            "description": "Delivery of complex parenteral chemotherapy for neoplasm at first attendance",
            "attributes": null
          },
          {
            "code": "238861000000108",
            "description": "Delivery of simple parenteral chemotherapy for neoplasm at first attendance",
            "attributes": null
          },
          {
            "code": "239071000000100",
            "description": "Delivery of subsequent element of cycle of chemotherapy for neoplasm",
            "attributes": null
          },
          {
            "code": "24181002",
            "description": "Aplasia of thymus gland with immunodeficiency",
            "attributes": null
          },
          {
            "code": "24974008",
            "description": "Myelokathexis",
            "attributes": null
          },
          {
            "code": "25109007",
            "description": "Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome",
            "attributes": null
          },
          {
            "code": "253336000",
            "description": "Isomerism of right atrial appendage",
            "attributes": null
          },
          {
            "code": "254067002",
            "description": "Immuno-osseous dysplasia",
            "attributes": null
          },
          {
            "code": "25472008",
            "description": "Sickle cell-hemoglobin D disease",
            "attributes": null
          },
          {
            "code": "25502009",
            "description": "Episodic lymphocytopenia",
            "attributes": null
          },
          {
            "code": "26252007",
            "description": "Chronic granulomatous disease, type IIA",
            "attributes": null
          },
          {
            "code": "275523003",
            "description": "Pancytopenia-dysmelia",
            "attributes": null
          },
          {
            "code": "275828002",
            "description": "Preventing infection of immunocompromised patient",
            "attributes": null
          },
          {
            "code": "275830000",
            "description": "Reverse barrier nursing",
            "attributes": null
          },
          {
            "code": "289317009",
            "description": "Granulocyte granule deficiency",
            "attributes": null
          },
          {
            "code": "29272001",
            "description": "Chronic granulomatous disease, type I",
            "attributes": null
          },
          {
            "code": "30575002",
            "description": "Fanconi's anemia",
            "attributes": null
          },
          {
            "code": "31323000",
            "description": "Severe combined immunodeficiency disease",
            "attributes": null
          },
          {
            "code": "328371000119107",
            "description": "Pancytopenia caused by antithyroid drug",
            "attributes": null
          },
          {
            "code": "328381000119105",
            "description": "Pancytopenia caused by anticonvulsant",
            "attributes": null
          },
          {
            "code": "33374000",
            "description": "Familial hemophagocytic lymphohistiocytosis",
            "attributes": null
          },
          {
            "code": "33479006",
            "description": "Distal subtotal pancreatectomy with splenectomy and pancreaticojejunostomy",
            "attributes": null
          },
          {
            "code": "3439009",
            "description": "Severe combined immunodeficiency due to absent peripheral T cell maturation",
            "attributes": null
          },
          {
            "code": "350353007",
            "description": "De Vaal's syndrome",
            "attributes": null
          },
          {
            "code": "351287008",
            "description": "Reticular dysgenesis with congenital aleukocytosis",
            "attributes": null
          },
          {
            "code": "35434009",
            "description": "Sickle cell-hemoglobin C disease",
            "attributes": null
          },
          {
            "code": "36070007",
            "description": "Wiskott-Aldrich syndrome",
            "attributes": null
          },
          {
            "code": "36138009",
            "description": "Congenital immunodeficiency disease",
            "attributes": null
          },
          {
            "code": "362993009",
            "description": "Autosomal recessive severe combined immunodeficiency disease",
            "attributes": null
          },
          {
            "code": "363040003",
            "description": "Congenital immunodeficiency involving the hematopoietic system",
            "attributes": null
          },
          {
            "code": "36472007",
            "description": "Sickle cell-thalassemia disease",
            "attributes": null
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