[
  {
    "phenotype_id": "PH2333",
    "phenotype_version_id": 5504,
    "name": "Chromosomal disorders affecting immune competence 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 `CHROMIMM_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": "2026-01-26T22:07:04.473887Z",
    "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": "2026-01-26T22:07:08.867456Z",
    "references": [],
    "signed_off": [],
    "methodology": "",
    "coding_system": [
      {
        "name": "SNOMED  CT codes",
        "value": 9
      }
    ],
    "open_codelist_id": "nhsd-primary-care-domain-refsets/chromimm_cod",
    "source_reference": "https://www.opencodelists.org/codelist/nhsd-primary-care-domain-refsets/chromimm_cod/20250912",
    "concept_information": [
      {
        "concept_id": 5681,
        "concept_version_id": 13166,
        "concept_name": "nhsd-primary-care-domain-refsets/chromimm_cod/20250912",
        "coding_system": {
          "id": 9,
          "name": "SNOMED  CT codes",
          "description": "SNOMED CT codes"
        },
        "phenotype_id": "PH2333",
        "phenotype_version_id": 5504,
        "phenotype_name": "Chromosomal disorders affecting immune competence codes",
        "code_attribute_header": [],
        "codes": [
          {
            "code": "1003381002",
            "description": "Onycho-tricho-dysplasia neutropenia syndrome",
            "attributes": null
          },
          {
            "code": "104281000000100",
            "description": "Bloom syndrome",
            "attributes": null
          },
          {
            "code": "111396008",
            "description": "Chédiak-Higashi syndrome",
            "attributes": null
          },
          {
            "code": "111584000",
            "description": "Reticular dysgenesis",
            "attributes": null
          },
          {
            "code": "111587007",
            "description": "Severe combined immunodeficiency due to absent interleukin-2 receptor",
            "attributes": null
          },
          {
            "code": "11210002",
            "description": "Chronic granulomatous disease",
            "attributes": null
          },
          {
            "code": "116133005",
            "description": "Congenital agammaglobulinemia",
            "attributes": null
          },
          {
            "code": "1162263002",
            "description": "Complement component 8 deficiency",
            "attributes": null
          },
          {
            "code": "1172892009",
            "description": "Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation",
            "attributes": null
          },
          {
            "code": "1172895006",
            "description": "Mendelian susceptibility to mycobacterial disease",
            "attributes": null
          },
          {
            "code": "1173999006",
            "description": "Interleukin 21 related infantile inflammatory bowel disease",
            "attributes": null
          },
          {
            "code": "1177173001",
            "description": "Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome",
            "attributes": null
          },
          {
            "code": "1177175008",
            "description": "Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome",
            "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": "1186654001",
            "description": "Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome",
            "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": "1186719000",
            "description": "Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency",
            "attributes": null
          },
          {
            "code": "1186720006",
            "description": "CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome",
            "attributes": null
          },
          {
            "code": "1186725001",
            "description": "Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome",
            "attributes": null
          },
          {
            "code": "1187623009",
            "description": "Phosphoglucomutase 3-related congenital disorder of glycosylation",
            "attributes": null
          },
          {
            "code": "1197205005",
            "description": "Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency",
            "attributes": null
          },
          {
            "code": "1197361002",
            "description": "Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency",
            "attributes": null
          },
          {
            "code": "1197415001",
            "description": "Susceptibility to infection due to tyrosine kinase 2 deficiency",
            "attributes": null
          },
          {
            "code": "1197428008",
            "description": "Combined immunodeficiency, enteropathy spectrum",
            "attributes": null
          },
          {
            "code": "1197477000",
            "description": "Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency",
            "attributes": null
          },
          {
            "code": "1197479002",
            "description": "Dedicator of cytokinesis 2 deficiency",
            "attributes": null
          },
          {
            "code": "1209075008",
            "description": "Periodontitis due to congenital neutropenia",
            "attributes": null
          },
          {
            "code": "1229942009",
            "description": "Severe combined immunodeficiency due to coronin 1A deficiency",
            "attributes": null
          },
          {
            "code": "1230295000",
            "description": "B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome",
            "attributes": null
          },
          {
            "code": "123309000",
            "description": "Chediak-Higashi syndrome",
            "attributes": null
          },
          {
            "code": "1234831009",
            "description": "Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome",
            "attributes": null
          },
          {
            "code": "124271005",
            "description": "Deficiency of purine-nucleoside phosphorylase",
            "attributes": null
          },
          {
            "code": "124523006",
            "description": "Deficiency of adenosine deaminase",
            "attributes": null
          },
          {
            "code": "1269277004",
            "description": "Leukocyte adhesion deficiency type 3",
            "attributes": null
          },
          {
            "code": "1279842008",
            "description": "Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency",
            "attributes": null
          },
          {
            "code": "1279887007",
            "description": "Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome",
            "attributes": null
          },
          {
            "code": "129644003",
            "description": "Myeloperoxidase deficiency syndrome",
            "attributes": null
          },
          {
            "code": "1297036006",
            "description": "Autosomal recessive agammaglobulinemia",
            "attributes": null
          },
          {
            "code": "18827005",
            "description": "Complement abnormality",
            "attributes": null
          },
          {
            "code": "190696004",
            "description": "Chediak-Higashi syndrome",
            "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": "190999009",
            "description": "Adenosine deaminase deficiency",
            "attributes": null
          },
          {
            "code": "191000008",
            "description": "Purine nucleoside phosphorylase deficiency",
            "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": "191007006",
            "description": "Severe combined immunodeficiency with short-limbed dwarfism",
            "attributes": null
          },
          {
            "code": "191011000",
            "description": "Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions",
            "attributes": null
          },
          {
            "code": "191012007",
            "description": "Common variable immunodeficiency with predominant immunoregulatory T-cell disorders",
            "attributes": null
          },
          {
            "code": "191013002",
            "description": "Common variable immunodeficiency with autoantibodies to B- or T-cells",
            "attributes": null
          },
          {
            "code": "191347008",
            "description": "Cyclical neutropenia",
            "attributes": null
          },
          {
            "code": "191354002",
            "description": "Chronic granulomatous disease",
            "attributes": null
          },
          {
            "code": "192801000000104",
            "description": "Schwachman's syndrome",
            "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": "23238000",
            "description": "Common variable agammaglobulinemia",
            "attributes": null
          },
          {
            "code": "234416002",
            "description": "X-linked hypogammaglobulinemia",
            "attributes": null
          },
          {
            "code": "234420003",
            "description": "Schwachman's syndrome",
            "attributes": null
          },
          {
            "code": "234430007",
            "description": "CR3-receptor deficiency",
            "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": "234536003",
            "description": "X-linked hyperimmunoglobulin M syndrome",
            "attributes": null
          },
          {
            "code": "234537007",
            "description": "Autosomal recessive hyperimmunoglobulin M syndrome",
            "attributes": null
          },
          {
            "code": "234547005",
            "description": "Combined immunoglobulin G2 and G4 deficiency",
            "attributes": null
          },
          {
            "code": "234556002",
            "description": "Specific antibody deficiency",
            "attributes": null
          },
          {
            "code": "234569003",
            "description": "X-linked severe combined immunodeficiency",
            "attributes": null
          },
          {
            "code": "234570002",
            "description": "Severe combined immunodeficiency with maternofetal engraftment",
            "attributes": null
          },
          {
            "code": "234571003",
            "description": "Warts, hypogammaglobulinemia, infections, and myelokathexis",
            "attributes": null
          },
          {
            "code": "234577004",
            "description": "Lipochrome histiocytosis - familial",
            "attributes": null
          },
          {
            "code": "234578009",
            "description": "Defective phagocytic cell opsonization",
            "attributes": null
          },
          {
            "code": "234579001",
            "description": "Mannan-binding protein deficiency",
            "attributes": null
          },
          {
            "code": "234580003",
            "description": "Defective phagocytic cell chemotaxis",
            "attributes": null
          },
          {
            "code": "234581004",
            "description": "Defective phagocytic cell adhesion",
            "attributes": null
          },
          {
            "code": "234582006",
            "description": "Leukocyte adhesion deficiency - type 1",
            "attributes": null
          },
          {
            "code": "234583001",
            "description": "Leukocyte adhesion deficiency - type 2",
            "attributes": null
          },
          {
            "code": "234585008",
            "description": "Defective phagocytic cell killing",
            "attributes": null
          },
          {
            "code": "234587000",
            "description": "Neutrophil lactoferrin deficiency",
            "attributes": null
          },
          {
            "code": "234593008",
            "description": "Classical complement pathway abnormality",
            "attributes": null
          },
          {
            "code": "234594002",
            "description": "Complement 1q deficiency",
            "attributes": null
          },
          {
            "code": "234595001",
            "description": "Complement 1q beta chain deficiency",
            "attributes": null
          },
          {
            "code": "234596000",
            "description": "Complement 1q dysfunction",
            "attributes": null
          },
          {
            "code": "234597009",
            "description": "Complement 1r deficiency",
            "attributes": null
          },
          {
            "code": "234598004",
            "description": "Complement 1s deficiency",
            "attributes": null
          },
          {
            "code": "234599007",
            "description": "Complement 2 deficiency",
            "attributes": null
          },
          {
            "code": "234600005",
            "description": "Complement 4 deficiency",
            "attributes": null
          },
          {
            "code": "234601009",
            "description": "Complement 4A deficiency",
            "attributes": null
          },
          {
            "code": "234602002",
            "description": "Complement 4B deficiency",
            "attributes": null
          },
          {
            "code": "234603007",
            "description": "Complement 3 deficiency",
            "attributes": null
          },
          {
            "code": "234605000",
            "description": "Factor B deficiency",
            "attributes": null
          },
          {
            "code": "234607008",
            "description": "Factor D deficiency",
            "attributes": null
          },
          {
            "code": "234608003",
            "description": "Terminal component deficiency",
            "attributes": null
          },
          {
            "code": "234609006",
            "description": "Complement 5 deficiency",
            "attributes": null
          },
          {
            "code": "234611002",
            "description": "Complement 6 deficiency",
            "attributes": null
          },
          {
            "code": "234612009",
            "description": "Complement 7 deficiency",
            "attributes": null
          },
          {
            "code": "234613004",
            "description": "Combined complement 6 and 7 deficiencies",
            "attributes": null
          },
          {
            "code": "234614005",
            "description": "Complement 8 beta chain deficiency",
            "attributes": null
          },
          {
            "code": "234615006",
            "description": "Complement 8 beta chain dysfunction",
            "attributes": null
          },
          {
            "code": "234616007",
            "description": "Complement 8 alpha-gamma deficiency",
            "attributes": null
          },
          {
            "code": "234617003",
            "description": "Complement 9 deficiency",
            "attributes": null
          },
          {
            "code": "234618008",
            "description": "Complement regulatory factor defect",
            "attributes": null
          },
          {
            "code": "234621005",
            "description": "Factor I deficiency",
            "attributes": null
          },
          {
            "code": "234622003",
            "description": "Factor H deficiency",
            "attributes": null
          },
          {
            "code": "234623008",
            "description": "Complement 4 binding protein deficiency",
            "attributes": null
          },
          {
            "code": "234626000",
            "description": "Complement 5a inhibitor deficiency",
            "attributes": null
          },
          {
            "code": "234628004",
            "description": "Complement receptor deficiency",
            "attributes": null
          },
          {
            "code": "234629007",
            "description": "Complement receptor 1 deficiency",
            "attributes": null
          },
          {
            "code": "234630002",
            "description": "Complement receptor 3 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": "237618001",
            "description": "Insulin-dependent diabetes mellitus secretory diarrhea syndrome",
            "attributes": null
          },
          {
            "code": "24743004",
            "description": "Complement deficiency disease",
            "attributes": null
          },
          {
            "code": "24974008",
            "description": "Myelokathexis",
            "attributes": null
          },
          {
            "code": "25109007",
            "description": "Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome",
            "attributes": null
          },
          {
            "code": "254067002",
            "description": "Immuno-osseous dysplasia",
            "attributes": null
          },
          {
            "code": "254086005",
            "description": "Schwachman's syndrome",
            "attributes": null
          },
          {
            "code": "25502009",
            "description": "Episodic lymphocytopenia",
            "attributes": null
          },
          {
            "code": "26252007",
            "description": "Chronic granulomatous disease, type IIA",
            "attributes": null
          },
          {
            "code": "263661007",
            "description": "Complement 5 dysfunction",
            "attributes": null
          },
          {
            "code": "267460002",
            "description": "Congenital hypogammaglobulinemia",
            "attributes": null
          },
          {
            "code": "267541006",
            "description": "Congenital neutropenia",
            "attributes": null
          },
          {
            "code": "275523003",
            "description": "Pancytopenia-dysmelia",
            "attributes": null
          },
          {
            "code": "289317009",
            "description": "Granulocyte granule deficiency",
            "attributes": null
          },
          {
            "code": "29260007",
            "description": "Immunoglobulin A deficiency",
            "attributes": null
          },
          {
            "code": "29272001",
            "description": "Chronic granulomatous disease, type I",
            "attributes": null
          },
          {
            "code": "304576008",
            "description": "Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency",
            "attributes": null
          },
          {
            "code": "307340003",
            "description": "Monosomy 7 syndrome",
            "attributes": null
          },
          {
            "code": "31323000",
            "description": "Severe combined immunodeficiency disease",
            "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": "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": "363009005",
            "description": "Complement component deficiency",
            "attributes": null
          },
          {
            "code": "363040003",
            "description": "Congenital immunodeficiency involving the hematopoietic system",
            "attributes": null
          },
          {
            "code": "36980009",
            "description": "Severe combined immunodeficiency due to absent adenosine deaminase",
            "attributes": null
          },
          {
            "code": "37548006",
            "description": "Hypopigmentation-immunodeficiency disease",
            "attributes": null
          },
          {
            "code": "387759001",
            "description": "Chronic granulomatous disease",
            "attributes": null
          },
          {
            "code": "39112005",
            "description": "Glutathione synthase deficiency with 5-oxoprolinuria",
            "attributes": null
          },
          {
            "code": "39674000",
            "description": "Familial C3B inhibitor deficiency syndrome",
            "attributes": null
          },
          {
            "code": "40145002",
            "description": "Congenital neutrophil actin dysfunction",
            "attributes": null
          },
          {
            "code": "40197009",
            "description": "Chronic granulomatous disease, type IA",
            "attributes": null
          },
          {
            "code": "402483002",
            "description": "Immunodeficiency with multicarboxylase deficiency",
            "attributes": null
          },
          {
            "code": "403835002",
            "description": "X-linked hyper-immunoglobulin M syndrome",
            "attributes": null
          },
          {
            "code": "403836001",
            "description": "Autosomal recessive hyperimmunoglobulin M syndrome",
            "attributes": null
          },
          {
            "code": "403837005",
            "description": "Wiskott-Aldrich autosomal dominant variant syndrome",
            "attributes": null
          },
          {
            "code": "403839008",
            "description": "Siccardi syndrome",
            "attributes": null
          },
          {
            "code": "442459007",
            "description": "Combined immunodeficiency disease",
            "attributes": null
          },
          {
            "code": "4434006",
            "description": "Bloom syndrome",
            "attributes": null
          },
          {
            "code": "449187006",
            "description": "Kappa light chain deficiency",
            "attributes": null
          },
          {
            "code": "44940001",
            "description": "Adenosine deaminase deficiency",
            "attributes": null
          },
          {
            "code": "449853003",
            "description": "Interleukin-12 deficiency",
            "attributes": null
          },
          {
            "code": "45390000",
            "description": "Severe combined immunodeficiency due to absent interleukin-2 production",
            "attributes": null
          },
          {
            "code": "49555001",
            "description": "Severe combined immunodeficiency due to absent T cell receptor",
            "attributes": null
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