[
  {
    "phenotype_id": "PH2984",
    "phenotype_version_id": 7670,
    "name": "Rare inherited anaemia 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 `RIA_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": "2026-01-26T22:56:22.959625Z",
    "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": "2026-01-26T22:56:26.456029Z",
    "references": [],
    "signed_off": [],
    "methodology": "",
    "coding_system": [
      {
        "name": "SNOMED  CT codes",
        "value": 9
      }
    ],
    "open_codelist_id": "nhsd-primary-care-domain-refsets/ria_cod",
    "source_reference": "https://www.opencodelists.org/codelist/nhsd-primary-care-domain-refsets/ria_cod/20250912",
    "concept_information": [
      {
        "concept_id": 7847,
        "concept_version_id": 15332,
        "concept_name": "nhsd-primary-care-domain-refsets/ria_cod/20250912",
        "coding_system": {
          "id": 9,
          "name": "SNOMED  CT codes",
          "description": "SNOMED CT codes"
        },
        "phenotype_id": "PH2984",
        "phenotype_version_id": 7670,
        "phenotype_name": "Rare inherited anaemia codes",
        "code_attribute_header": [],
        "codes": [
          {
            "code": "1010397000",
            "description": "Severe deficiency of glucose-6-phosphate dehydrogenase",
            "attributes": null
          },
          {
            "code": "10564005",
            "description": "Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin",
            "attributes": null
          },
          {
            "code": "10759351000119103",
            "description": "Sickle cell anemia in mother complicating childbirth",
            "attributes": null
          },
          {
            "code": "109998009",
            "description": "Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia",
            "attributes": null
          },
          {
            "code": "111407006",
            "description": "Hemolytic uremic syndrome",
            "attributes": null
          },
          {
            "code": "111576004",
            "description": "Acquired stomatocytosis",
            "attributes": null
          },
          {
            "code": "1144979004",
            "description": "Disorder of glomerulus due to hemolytic uremic syndrome",
            "attributes": null
          },
          {
            "code": "1148914007",
            "description": "Autosomal dominant sideroblastic anemia",
            "attributes": null
          },
          {
            "code": "1153399000",
            "description": "Homozygous hereditary elliptocytosis",
            "attributes": null
          },
          {
            "code": "1153413001",
            "description": "Acute sequestration of spleen due to sickle cell thalassemia with crisis",
            "attributes": null
          },
          {
            "code": "1153414007",
            "description": "Acute chest syndrome due to sickle cell hemoglobin C disease with crisis",
            "attributes": null
          },
          {
            "code": "1153415008",
            "description": "Acute sequestration of spleen due to sickle cell hemoglobin C disease with crisis",
            "attributes": null
          },
          {
            "code": "118791000119106",
            "description": "Aplastic anemia caused by antineoplastic agent",
            "attributes": null
          },
          {
            "code": "123308008",
            "description": "Hemolytic uremic syndrome",
            "attributes": null
          },
          {
            "code": "1237349008",
            "description": "Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome",
            "attributes": null
          },
          {
            "code": "1239371000000103",
            "description": "Haemoglobin E beta zero thalassaemia",
            "attributes": null
          },
          {
            "code": "124134002",
            "description": "Deficiency of glucose-6-phosphate dehydrogenase",
            "attributes": null
          },
          {
            "code": "124331002",
            "description": "Deficiency of pyruvate kinase",
            "attributes": null
          },
          {
            "code": "1260268001",
            "description": "Myelodysplastic syndrome with low blasts",
            "attributes": null
          },
          {
            "code": "1260270005",
            "description": "Hypoplastic myelodysplastic syndrome",
            "attributes": null
          },
          {
            "code": "1269225005",
            "description": "Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency",
            "attributes": null
          },
          {
            "code": "1269270002",
            "description": "Infection-related hemolytic uremic syndrome",
            "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": "1295220004",
            "description": "Atypical hemolytic uremic syndrome with anti-factor H antibodies",
            "attributes": null
          },
          {
            "code": "14024008",
            "description": "Humoral immunologic aplastic anemia",
            "attributes": null
          },
          {
            "code": "14087004",
            "description": "Hereditary stomatocytosis",
            "attributes": null
          },
          {
            "code": "14126008",
            "description": "Autosomal-linked pyridoxine refractory sideroblastic anemia",
            "attributes": null
          },
          {
            "code": "15121005",
            "description": "Hereditary elliptocytosis due to glycophorin C deficiency",
            "attributes": null
          },
          {
            "code": "154795009",
            "description": "Hereditary spherocytosis",
            "attributes": null
          },
          {
            "code": "154801000",
            "description": "(Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism)",
            "attributes": null
          },
          {
            "code": "154807001",
            "description": "Anaemia: [aplastic and other] or [aplastic] or [hypoblastic]",
            "attributes": null
          },
          {
            "code": "154808006",
            "description": "Constitutional aplastic anaemia",
            "attributes": null
          },
          {
            "code": "154809003",
            "description": "Acquired aplastic anaemia",
            "attributes": null
          },
          {
            "code": "154810008",
            "description": "Sideroblastic anaemia",
            "attributes": null
          },
          {
            "code": "178935009",
            "description": "Congenital elliptocytosis",
            "attributes": null
          },
          {
            "code": "188588001",
            "description": "Adenosine deaminase superactivity",
            "attributes": null
          },
          {
            "code": "189510008",
            "description": "Refractory anemia with sideroblasts",
            "attributes": null
          },
          {
            "code": "191169008",
            "description": "Hereditary elliptocytosis",
            "attributes": null
          },
          {
            "code": "191171008",
            "description": "Glucose-6-phosphate dehydrogenase deficiency anemia",
            "attributes": null
          },
          {
            "code": "191178002",
            "description": "Hemolytic anemia due to pyruvate kinase deficiency",
            "attributes": null
          },
          {
            "code": "191184004",
            "description": "Thalassemia minor NEC",
            "attributes": null
          },
          {
            "code": "191189009",
            "description": "Beta thalassemia intermedia",
            "attributes": null
          },
          {
            "code": "191190000",
            "description": "Beta thalassaemia: (& minor)",
            "attributes": null
          },
          {
            "code": "191195005",
            "description": "Sickle cell anemia of unspecified type",
            "attributes": null
          },
          {
            "code": "191196006",
            "description": "Sickle cell anemia with no crisis",
            "attributes": null
          },
          {
            "code": "191197002",
            "description": "Sickle cell anemia with crisis",
            "attributes": null
          },
          {
            "code": "191199004",
            "description": "Sickle cell anemia NOS",
            "attributes": null
          },
          {
            "code": "191228007",
            "description": "Acquired spherocytosis",
            "attributes": null
          },
          {
            "code": "191233006",
            "description": "Aplastic anaemia",
            "attributes": null
          },
          {
            "code": "191235004",
            "description": "(Anaemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome)",
            "attributes": null
          },
          {
            "code": "191236003",
            "description": "Anaemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation]",
            "attributes": null
          },
          {
            "code": "191238002",
            "description": "(Constitutional aplastic anaemia with malformation) or (pancytopenia - dysmelia)",
            "attributes": null
          },
          {
            "code": "191241006",
            "description": "Other specified constitutional aplastic anemia",
            "attributes": null
          },
          {
            "code": "191242004",
            "description": "Constitutional aplastic anemia NOS",
            "attributes": null
          },
          {
            "code": "191243009",
            "description": "Anaemia: [acquired aplastic] or [normocytic due to aplasia]",
            "attributes": null
          },
          {
            "code": "191244003",
            "description": "Aplastic anemia due to chronic disease",
            "attributes": null
          },
          {
            "code": "191245002",
            "description": "Anaemia: [aplastic due to drugs] or [hypoplastic due to drug or chemical substance]",
            "attributes": null
          },
          {
            "code": "191246001",
            "description": "Aplastic anemia due to infection",
            "attributes": null
          },
          {
            "code": "191247005",
            "description": "Aplastic anemia caused by radiation",
            "attributes": null
          },
          {
            "code": "191248000",
            "description": "Aplastic anemia caused by toxic cause",
            "attributes": null
          },
          {
            "code": "191253005",
            "description": "Anaemia: [acquired aplastic NOS] or [acquired pure red cell aplasia] or [red cell hypoplasia] or [secondary red cell aplasia or hypoplasia NEC]",
            "attributes": null
          },
          {
            "code": "191256002",
            "description": "Idiopathic aplastic anemia",
            "attributes": null
          },
          {
            "code": "191258001",
            "description": "Aplastic anemia NOS",
            "attributes": null
          },
          {
            "code": "191260004",
            "description": "Pyridoxine-responsive sideroblastic anemia",
            "attributes": null
          },
          {
            "code": "191261000",
            "description": "Secondary sideroblastic anemia due to disease",
            "attributes": null
          },
          {
            "code": "191262007",
            "description": "Secondary sideroblastic anemia caused by drugs and toxins",
            "attributes": null
          },
          {
            "code": "191263002",
            "description": "Sideroblastic anemia NOS",
            "attributes": null
          },
          {
            "code": "191272005",
            "description": "Congenital anaemia: [dyshaematopoietic] or [dyserythropoietic (& NEC)]",
            "attributes": null
          },
          {
            "code": "191274006",
            "description": "Congenital dyserythropoietic anaemia type II",
            "attributes": null
          },
          {
            "code": "191419008",
            "description": "[X]Other sickle cell disorders",
            "attributes": null
          },
          {
            "code": "191427004",
            "description": "[X]Other specified aplastic anemias",
            "attributes": null
          },
          {
            "code": "191429001",
            "description": "[X]Other sideroblastic anemias",
            "attributes": null
          },
          {
            "code": "206439006",
            "description": "Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency",
            "attributes": null
          },
          {
            "code": "21412009",
            "description": "X chromosome-linked pyridoxine refractory sideroblastic anemia",
            "attributes": null
          },
          {
            "code": "21976009",
            "description": "Hemoglobin S disease without crisis",
            "attributes": null
          },
          {
            "code": "22933009",
            "description": "Glucose-6-phosphate dehydrogenase deficiency class I variant anemia",
            "attributes": null
          },
          {
            "code": "232033003",
            "description": "Sickle cell-hemoglobin C retinopathy",
            "attributes": null
          },
          {
            "code": "23269001",
            "description": "Double heterozygous sickling disorder",
            "attributes": null
          },
          {
            "code": "23371004",
            "description": "Epsilon gamma delta beta thalassemia",
            "attributes": null
          },
          {
            "code": "234355002",
            "description": "Congenital dyserythropoiesis NEC",
            "attributes": null
          },
          {
            "code": "234366009",
            "description": "Alcohol-related sideroblastic anemia",
            "attributes": null
          },
          {
            "code": "234368005",
            "description": "Constitutional aplastic anemia without mention of malformation",
            "attributes": null
          },
          {
            "code": "234391009",
            "description": "Sickle cell anemia with high hemoglobin F",
            "attributes": null
          },
          {
            "code": "234410008",
            "description": "Hereditary elliptocytosis with transient poikilocytosis",
            "attributes": null
          },
          {
            "code": "236468006",
            "description": "Adult Fanconi syndrome",
            "attributes": null
          },
          {
            "code": "237926007",
            "description": "Glutathione synthase deficiency without 5-oxoprolinuria",
            "attributes": null
          },
          {
            "code": "237985009",
            "description": "Pearson's syndrome",
            "attributes": null
          },
          {
            "code": "240486003",
            "description": "Parvoviral aplastic crisis",
            "attributes": null
          },
          {
            "code": "24661004",
            "description": "Glucose-6-phosphate dehydrogenase deficiency class III variant anemia",
            "attributes": null
          },
          {
            "code": "25266006",
            "description": "Hereditary spherocytosis due to spectrin deficiency",
            "attributes": null
          },
          {
            "code": "25443007",
            "description": "X chromosome-linked pyridoxine responsive sideroblastic anemia",
            "attributes": null
          },
          {
            "code": "25472008",
            "description": "Sickle cell-hemoglobin D disease",
            "attributes": null
          },
          {
            "code": "26409005",
            "description": "Congenital dyserythropoietic anemia, type III",
            "attributes": null
          },
          {
            "code": "267523003",
            "description": "Constitutional aplastic anemia",
            "attributes": null
          },
          {
            "code": "267524009",
            "description": "Constitutional aplastic anemia with malformation",
            "attributes": null
          },
          {
            "code": "267526006",
            "description": "Acquired aplastic anemia",
            "attributes": null
          },
          {
            "code": "267527002",
            "description": "Aplastic anemia due to drugs",
            "attributes": null
          },
          {
            "code": "267529004",
            "description": "Acquired aplastic anemia NOS",
            "attributes": null
          },
          {
            "code": "267558001",
            "description": "(Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism)",
            "attributes": null
          },
          {
            "code": "267560004",
            "description": "Anaemia: [aplastic and other] or [aplastic] or [hypoblastic]",
            "attributes": null
          },
          {
            "code": "274546009",
            "description": "[EDTA] Hemolytic uremic syndrome including Moschcowitz syndrome associated with renal failure",
            "attributes": null
          },
          {
            "code": "275523003",
            "description": "Pancytopenia-dysmelia",
            "attributes": null
          },
          {
            "code": "276448005",
            "description": "Idiopathic sideroblastic anemia",
            "attributes": null
          },
          {
            "code": "28975000",
            "description": "Constitutional aplastic anemia",
            "attributes": null
          },
          {
            "code": "2966007",
            "description": "Aplastic anemia secondary to radiation",
            "attributes": null
          },
          {
            "code": "305047005",
            "description": "Aplastic anemia",
            "attributes": null
          },
          {
            "code": "30575002",
            "description": "Fanconi's anemia",
            "attributes": null
          },
          {
            "code": "306058006",
            "description": "Aplastic anemia",
            "attributes": null
          },
          {
            "code": "307343001",
            "description": "Acquired hemoglobin H disease",
            "attributes": null
          },
          {
            "code": "31779001",
            "description": "Aplastic anemia secondary to pancreatitis",
            "attributes": null
          },
          {
            "code": "33905008",
            "description": "Hereditary spherocytosis due to deficiency of protein 4.2",
            "attributes": null
          },
          {
            "code": "34852006",
            "description": "Glucose-6-phosphate dehydrogenase deficiency class II variant anemia",
            "attributes": null
          },
          {
            "code": "351181000119103",
            "description": "Anemia due to enzymopathy",
            "attributes": null
          },
          {
            "code": "35434009",
            "description": "Sickle cell-hemoglobin C disease",
            "attributes": null
          },
          {
            "code": "36472007",
            "description": "Sickle cell-thalassemia disease",
            "attributes": null
          },
          {
            "code": "36568005",
            "description": "Hemolytic uremic syndrome of childhood",
            "attributes": null
          },
          {
            "code": "373420004",
            "description": "Upshaw-Schulman syndrome",
            "attributes": null
          },
          {
            "code": "373421000",
            "description": "Diarrhea-associated hemolytic uremic syndrome",
            "attributes": null
          },
          {
            "code": "373422007",
            "description": "Diarrhea-negative hemolytic uremic syndrome",
            "attributes": null
          },
          {
            "code": "39112005",
            "description": "Glutathione synthase deficiency with 5-oxoprolinuria",
            "attributes": null
          },
          {
            "code": "413564005",
            "description": "Aplastic anemia associated with infection",
            "attributes": null
          },
          {
            "code": "413565006",
            "description": "Aplastic anemia associated with metabolic alteration",
            "attributes": null
          },
          {
            "code": "413566007",
            "description": "Aplastic anemia associated with pancreatitis",
            "attributes": null
          },
          {
            "code": "413567003",
            "description": "Aplastic anemia associated with pregnancy",
            "attributes": null
          },
          {
            "code": "416214006",
            "description": "Sickle cell-hemoglobin D disease without crisis",
            "attributes": null
          },
          {
            "code": "416290001",
            "description": "Hemoglobin S sickling disorder without crisis",
            "attributes": null
          },
          {
            "code": "416484003",
            "description": "Sickle cell-hemoglobin E disease with crisis",
            "attributes": null
          },
          {
            "code": "416638004",
            "description": "Sickle cell-hemoglobin E disease without crisis",
            "attributes": null
          },
          {
            "code": "416826005",
            "description": "Sickle cell-thalassemia disease with crisis",
            "attributes": null
          },
          {
            "code": "417048006",
            "description": "Sickle cell-thalassemia disease without crisis",
            "attributes": null
          },
          {
            "code": "417250005",
            "description": "Bone marrow granulocytic aplasia",
            "attributes": null
          },
          {
            "code": "417279003",
            "description": "Hemoglobin S sickling disorder with crisis",
            "attributes": null
          },
          {
            "code": "417357006",
            "description": "Sickling disorder due to hemoglobin S",
            "attributes": null
          },
          {
            "code": "417517009",
            "description": "Sickle cell-hemoglobin C disease with crisis",
            "attributes": null
          },
          {
            "code": "417683006",
            "description": "Sickle cell-hemoglobin C disease without crisis",
            "attributes": null
          },
          {
            "code": "417748003",
            "description": "Sickle cell-hemoglobin D disease with crisis",
            "attributes": null
          },
          {
            "code": "41841004",
            "description": "Sideroblastic anemia",
            "attributes": null
          },
          {
            "code": "421102007",
            "description": "Aplastic anemia with acquired immunodeficiency syndrome",
            "attributes": null
          },
          {
            "code": "429208004",
            "description": "History of aplastic anemia",
            "attributes": null
          },
          {
            "code": "430571000000104",
            "description": "[X]Other sideroblastic anaemias",
            "attributes": null
          },
          {
            "code": "43858000",
            "description": "Secondary aplastic anemia",
            "attributes": null
          },
          {
            "code": "441586006",
            "description": "History of Fanconi anemia",
            "attributes": null
          },
          {
            "code": "441638006",
            "description": "History of Diamond-Blackfan anemia",
            "attributes": null
          },
          {
            "code": "444108000",
            "description": "Acute sickle cell splenic sequestration crisis",
            "attributes": null
          },
          {
            "code": "444976001",
            "description": "Congenital hemolytic uremic syndrome",
            "attributes": null
          },
          {
            "code": "450011000000103",
            "description": "[X]Other specified aplastic anaemias",
            "attributes": null
          },
          {
            "code": "455791000000104",
            "description": "[X]Other sickle cell disorders",
            "attributes": null
          },
          {
            "code": "46760003",
            "description": "Estren-Dameshek anemia",
            "attributes": null
          },
          {
            "code": "47024008",
            "description": "Sickle cell-hemoglobin E disease",
            "attributes": null
          },
          {
            "code": "47047009",
            "description": "Thalassemia with other hemoglobinopathy",
            "attributes": null
          },
          {
            "code": "47226002",
            "description": "Aplastic anemia secondary to pregnancy",
            "attributes": null
          },
          {
            "code": "47516005",
            "description": "Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin",
            "attributes": null
          },
          {
            "code": "48553001",
            "description": "Hemoglobin H disease",
            "attributes": null
          },
          {
            "code": "48983004",
            "description": "X chromosome-linked sideroblastic anemia",
            "attributes": null
          },
          {
            "code": "49155007",
            "description": "Aplastic anemia secondary to chemicals",
            "attributes": null
          },
          {
            "code": "50220002",
            "description": "Cellular immunologic aplastic anemia",
            "attributes": null
          },
          {
            "code": "519711000000107",
            "description": "Congenital haemolytic uraemic syndrome",
            "attributes": null
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          {
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