Rare genetic, metabolic and autoimmune disease codes
Codelist metadata
-
Coding system
- SNOMED CT
-
Coding system release
- unknown
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Organisation
- NHSD Primary Care Domain Refsets
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Codelist ID
- nhsd-primary-care-domain-refsets/c19rgmadiag_cod
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Version Tag
- 20210127
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Version ID
- 1f0330c2
Versions
About
Description
Taken from the C19RGMADIAG_COD refset published by NHSD.
References
Codelists are developed by a broad community of users for individual study purposes, which may or may not meet the needs of other studies. They should not be thought of as universal definitions of a particular condition.
We don't offer any guarantees about what they do or don't identify. Users should carefully check that any codelist meets their needs, and seek clinical input where appropriate.
| code | term |
|---|---|
| 103078009 | Immunodeficiency secondary to trauma |
| 103079001 | Immunodeficiency caused by corticosteroid |
| 103080003 | Immunodeficiency secondary to radiation therapy |
| 103081004 | Immunodeficiency secondary to chemotherapy |
| 106511000119106 | Long-term current use of mycophenolate |
| 106581000119100 | Long-term current use of cyclosporine |
| 106631000119102 | Long-term current use of infliximab |
| 10746341000119109 | Acquired immune deficiency syndrome complicating childbirth |
| 10759351000119103 | Sickle cell anemia in mother complicating childbirth |
| 10838971000119103 | Immunodeficiency caused by long term therapeutic use of drug |
| 111396008 | Chédiak-Higashi syndrome |
| 111584000 | Reticular dysgenesis |
| 111585004 | Neutropenia associated with autoimmune disease |
| 111587007 | Severe combined immunodeficiency due to absent interleukin-2 receptor |
| 113531000119106 | Long term current use of abatacept |
| 113541000119102 | Long-term current use of rituximab |
| 11603001 | Sickle cell retinopathy |
| 118791000119106 | Aplastic anemia caused by antineoplastic agent |
| 12240661000119103 | Long term systemic steroid user |
| 123617004 | Fleckmilz |
| 123772008 | Homozygous hemoglobinopathy |
| 123777002 | Autoimmune leukopenia |
| 127034005 | Pancytopenia |
| 127040003 | Sickle cell-hemoglobin SS disease |
| 127041004 | Sickle cell-beta-thalassemia |
| 127042006 | Sickle cell beta plus thalassemia |
| 127043001 | Sickle cell-beta^0^-thalassemia |
| 127044007 | Sickle cell-delta beta^0^-thalassemia |
| 127045008 | Sickle cell anemia with coexistent alpha-thalassemia |
| 127047000 | Sickle cell-hemoglobin Lepore disease |
| 127048005 | Sickle cell-Hemoglobin O Arab disease |
| 129640007 | Benign granulocytopenia in childhood |
| 129641006 | Chronic benign neutropenia of childhood |
| 13886001 | Sickle cell nephropathy |
| 140561000119102 | Long-term current use of azathioprine |
| 15625411000119109 | Long-term current use of apremilast |
| 15625451000119105 | Long-term current use of tofacitinib |
| 161626009 | History of splenectomy |
| 16623961000119100 | Pancytopenia caused by immunosuppressant |
| 168520004 | Radiotherapy for immunosuppression |
| 169335009 | External beam - surgery with chemotherapy |
| 169336005 | External beam with chemotherapy |
| 174778000 | Total splenectomy and reimplantation of fragments |
| 17604001 | Bilateral right-sidedness sequence |
| 183005 | Autoimmune pancytopenia |
| 190993005 | Autosomal recessive severe combined immunodeficiency |
| 190995003 | Thymic aplasia or dysplasia with immunodeficiency |
| 190996002 | Severe combined immunodeficiency with reticular dysgenesis |
| 190997006 | Severe combined immunodeficiency with low T- and B-cell numbers |
| 190998001 | Severe combined immunodeficiency with low or normal B-cell numbers |
| 191001007 | Major histocompatibility complex class I deficiency |
| 191002000 | Major histocompatibility complex class II deficiency |
| 191013002 | Common variable immunodeficiency with autoantibodies to B- or T-cells |
| 193370005 | Proliferative retinopathy due to sickle cell disease |
| 203592006 | X-linked severe combined immunodeficiency |
| 21527007 | Chronic granulomatous disease, type IV |
| 22406001 | Severe combined immunodeficiency due to absent lymphoid stem cells |
| 232033003 | Sickle cell-hemoglobin C retinopathy |
| 234319005 | Splenectomy |
| 234391009 | Sickle cell anemia with high hemoglobin F |
| 234416002 | X-linked hypogammaglobulinemia |
| 234429002 | Chemotactic disorder |
| 234437005 | Hemophagocytic lymphohistiocytosis |
| 234511009 | Post-splenectomy disorder |
| 234512002 | Post-splenectomy thrombocytosis |
| 234533006 | X-linked agammaglobulinemia with growth hormone deficiency |
| 234534000 | Autosomal agammaglobulinemia with absent B-cells |
| 234537007 | Autosomal recessive hyperimmunoglobulin M syndrome |
| 234547005 | Combined immunoglobulin G2 and G4 deficiency |
| 234564008 | Primary immunoglobulin catabolism abnormality |
| 234565009 | Immunoglobulin hypercatabolism |
| 234566005 | Familial immunoglobulin hypercatabolism |
| 234570002 | Severe combined immunodeficiency with maternofetal engraftment |
| 234587000 | Neutrophil lactoferrin deficiency |
| 234588005 | Neutrophil secondary granule deficiency |
| 234632005 | Immunodeficiency associated with chromosomal abnormality |
| 234633000 | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency |
| 234634006 | Chromosome 18 syndromes and antibody deficiency |
| 234635007 | Chromosome 22 abnormalities with hypogammaglobulinemia |
| 234636008 | Monosomy 22 and absence of immunoglobulin A |
| 234637004 | Deletion of X-chromosome and hypogammaglobulinemia |
| 234638009 | Microcephaly, normal intelligence and immunodeficiency |
| 234639001 | Triple X syndrome, epilepsy, and hypogammaglobulinemia |
| 234640004 | 18-p syndrome with associated immunodeficiency |
| 234641000 | Immunodeficiency associated with multiple organ system abnormalities |
| 234642007 | Age-related immunodeficiency |
| 234645009 | Drug-induced immunodeficiency |
| 235331000000103 | Delivery of oral chemotherapy for neoplasm |
| 235391000000102 | Delivery of chemotherapy for neoplasm |
| 238831000000103 | Delivery of exclusively oral chemotherapy for neoplasm |
| 238841000000107 | Delivery of complex chemotherapy for neoplasm including prolonged infusional treatment at first attendance |
| 238851000000105 | Delivery of complex parenteral chemotherapy for neoplasm at first attendance |
| 238861000000108 | Delivery of simple parenteral chemotherapy for neoplasm at first attendance |
| 239071000000100 | Delivery of subsequent element of cycle of chemotherapy for neoplasm |
| 24181002 | Aplasia of thymus gland with immunodeficiency |
| 24974008 | Myelokathexis |
| 25109007 | Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome |
| 254067002 | Immuno-osseous dysplasia |
| 25472008 | Sickle cell-hemoglobin D disease |
| 25502009 | Episodic lymphocytopenia |
| 26252007 | Chronic granulomatous disease, type IIA |
| 275523003 | Pancytopenia-dysmelia |
| 275828002 | Preventing infection of immunocompromised patient |
| 275830000 | Reverse barrier nursing |
| 289317009 | Granulocyte granule deficiency |
| 29272001 | Chronic granulomatous disease, type I |
| 30575002 | Fanconi's anemia |
| 31323000 | Severe combined immunodeficiency disease |
| 33479006 | Distal subtotal pancreatectomy with splenectomy and pancreaticojejunostomy |
| 3439009 | Severe combined immunodeficiency due to absent peripheral T cell maturation |
| 350353007 | De Vaal's syndrome |
| 351287008 | Reticular dysgenesis with congenital aleukocytosis |
| 35434009 | Sickle cell-hemoglobin C disease |
| 36070007 | Wiskott-Aldrich syndrome |
| 36138009 | Congenital immunodeficiency disease |
| 362993009 | Autosomal recessive severe combined immunodeficiency disease |
| 363040003 | Congenital immunodeficiency involving the hematopoietic system |
| 36472007 | Sickle cell-thalassemia disease |
| 36980009 | Severe combined immunodeficiency due to absent adenosine deaminase |
| 370388006 | Patient immunocompromised |
| 370391006 | Patient immunosuppressed |
| 37548006 | Hypopigmentation-immunodeficiency disease |
| 38013005 | Immunosuppression |
| 387759001 | Chronic granulomatous disease |
| 38970002 | Doan-Wright syndrome |
| 394934009 | Combined pre-operative chemotherapy and radiotherapy |
| 394935005 | Combined post-operative chemotherapy and radiotherapy |
| 398250003 | Familial hemophagocytic lymphohistiocytosis |
| 398271008 | Predominantly T-cell defect |
| 40145002 | Congenital neutrophil actin dysfunction |
| 40197009 | Chronic granulomatous disease, type IA |
| 402483002 | Immunodeficiency with multicarboxylase deficiency |
| 402792003 | T-lymphocyte immunodeficiency |
| 403835002 | X-linked hyper-immunoglobulin M syndrome |
| 403836001 | Autosomal recessive hyperimmunoglobulin M syndrome |
| 403837005 | Wiskott-Aldrich autosomal dominant variant syndrome |
| 403839008 | Siccardi syndrome |
| 415005004 | Panleukopenia |
| 416180004 | Hemoglobin SS disease without crisis |
| 416214006 | Sickle cell-hemoglobin D disease without crisis |
| 416290001 | Hemoglobin S sickling disorder without crisis |
| 416484003 | Sickle cell-hemoglobin E disease with crisis |
| 416638004 | Sickle cell-hemoglobin E disease without crisis |
| 416729007 | Neutropenia associated with acquired immunodeficiency syndrome |
| 416826005 | Sickle cell-thalassemia disease with crisis |
| 417048006 | Sickle cell-thalassemia disease without crisis |
| 417279003 | Hemoglobin S sickling disorder with crisis |
| 417357006 | Sickling disorder due to hemoglobin S |
| 417425009 | Hemoglobin SS disease with crisis |
| 417517009 | Sickle cell-hemoglobin C disease with crisis |
| 417683006 | Sickle cell-hemoglobin C disease without crisis |
| 417748003 | Sickle cell-hemoglobin D disease with crisis |
| 41814009 | Neutropenia with dysgranulopoiesis |
| 420403001 | Pneumocystosis associated with acquired immunodeficiency syndrome |
| 420544002 | Bacterial pneumonia associated with acquired immunodeficiency syndrome |
| 420787001 | Pneumococcal pneumonia associated with acquired immunodeficiency syndrome |
| 421047005 | Candidiasis of lung associated with acquired immunodeficiency syndrome |
| 421102007 | Aplastic anemia associated with acquired immunodeficiency syndrome |
| 421312009 | Agranulocytosis associated with acquired immunodeficiency syndrome |
| 421508002 | Viral pneumonia associated with acquired immunodeficiency syndrome |
| 421671002 | Pneumonia associated with acquired immunodeficiency syndrome |
| 422003001 | Cachexia associated with acquired immunodeficiency syndrome |
| 428501000000108 | [V]Chemotherapy session for neoplasm |
| 440206000 | Hemoglobin SS disease with vasoocclusive crisis |
| 441482006 | History of sickle cell anemia |
| 442459007 | Combined immunodeficiency disease |
| 4434006 | Bloom syndrome |
| 444108000 | Acute sickle cell splenic sequestration crisis |
| 44940001 | Adenosine deaminase deficiency |
| 45390000 | Severe combined immunodeficiency due to absent interleukin-2 production |
| 46760003 | Estren-Dameshek anemia |
| 47024008 | Sickle cell-hemoglobin E disease |
| 48119005 | Dysplasia of thymus gland with immunodeficiency |
| 49555001 | Severe combined immunodeficiency due to absent T cell receptor |
| 50926003 | Job's syndrome |
| 55602000 | Nezelof's syndrome |
| 60194009 | Distal subtotal pancreatectomy with splenectomy |
| 60743005 | Purine-nucleoside phosphorylase deficiency |
| 61251000119108 | Long-term current use of tacrolimus |
| 61261000119105 | Long-term current use of sirolimus |
| 62479008 | Acquired immune deficiency syndrome |
| 65880007 | X-linked agammaglobulinemia |
| 697919000 | Pulmonary hypertension due to post-splenectomy hematological disorder |
| 700050004 | Overwhelming infection in asplenic patient |
| 700051000 | Sepsis in asplenic subject |
| 700052007 | Post-splenectomy sepsis |
| 702624008 | Aplasia of spleen |
| 703523004 | Spondyloenchondrodysplasia with immune dysregulation |
| 707152007 | Phagocytic immunodeficiency |
| 707311008 | Immunosuppressant drug therapy |
| 709465004 | Periodontitis co-occurrent with Chédiak-Higashi syndrome |
| 709535007 | Periodontitis co-occurrent with infantile genetic agranulocytosis |
| 710159007 | Long-term current use of immunosuppressive drug |
| 710927004 | Periodontitis co-occurrent with cyclical neutropenia |
| 711480000 | Activated PI3K-delta syndrome |
| 713444005 | Hemophagocytic syndrome co-occurrent with human immunodeficiency virus infection |
| 713517003 | Infliximab therapy |
| 713518008 | Mycophenolate therapy |
| 713551004 | Azathioprine therapy |
| 713964006 | Multidermatomal infection caused by Herpes zoster co-occurrent with human immunodeficiency virus infection |
| 715982006 | Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency |
| 716198008 | Growth delay with hydrocephalus and lung hypoplasia syndrome |
| 716378008 | Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency |
| 716871006 | Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency |
| 716872004 | Antineoplastic chemotherapy regimen |
| 717811007 | Combined immunodeficiency due to calcium release activated calcium channel dysfunction |
| 718107000 | Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency |
| 718882006 | X-linked severe congenital neutropenia |
| 71904008 | Severe combined immunodeficiency due to absent class II human leukocyte antigens |
| 719156006 | X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome |
| 719685004 | Absent thumb with short stature and immunodeficiency syndrome |
| 719814009 | X-linked mendelian susceptibility to mycobacterial disease |
| 719827008 | X-linked immunoneurologic disorder |
| 720345008 | Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome |
| 720520009 | Attenuated Chédiak-Higashi syndrome |
| 720853005 | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome |
| 721095007 | Diaphragmatic defect, limb deficiency, skull defect syndrome |
| 722067005 | Severe combined immunodeficiency with hypereosinophilia |
| 722189006 | Abatacept therapy |
| 722288007 | Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome |
| 723334006 | Immunodeficiency due to mutation of FAS-associated protein with death domain gene |
| 723512008 | Revesz syndrome |
| 723995003 | Schimke immuno-osseous dysplasia |
| 724159000 | Rituximab therapy |
| 724160005 | Tacrolimus therapy |
| 724165000 | Tofacitinib therapy |
| 724177005 | Ligase 4 syndrome |
| 724275005 | Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency |
| 724276006 | X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome |
| 724641002 | Primary hemophagocytic lymphohistiocytosis |
| 725135004 | Combined immunodeficiency due to CD3gamma deficiency |
| 725136003 | Immunodeficiency by defective expression of human leukocyte antigen class 1 |
| 725290000 | Combined immunodeficiency due to partial recombination-activating gene 1 deficiency |
| 726599006 | Sirolimus therapy |
| 726603006 | Apremilast therapy |
| 735527002 | Human immunodeficiency virus World Health Organization 2007 stage 4 co-occurrent with tuberculosis |
| 735528007 | Human immunodeficiency virus World Health Organization 2007 stage 4 co-occurrent with malaria |
| 735536003 | Adult-onset immunodeficiency |
| 736024007 | Pancytopenia caused by medication |
| 737307003 | Natural-killer cell deficiency |
| 737381004 | World Health Organization 2007 Human immunodeficiency virus infection clinical stage 4 |
| 76243000 | Chronic granulomatous disease, type IVA |
| 763623001 | Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency |
| 765145001 | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency |
| 765188009 | Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency |
| 765327005 | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome |
| 766879006 | Combined immunodeficiency due to OX40 deficiency |
| 766983005 | Susceptibility to respiratory infection associated with CD8alpha chain mutation |
| 768556005 | Ataxia pancytopenia syndrome |
| 768560008 | Melanoma differentiation-associated gene 5 deficiency |
| 769167005 | Vaso-occlusive pain co-occurrent and due to sickle cell disease |
| 77121009 | X-linked lymphoproliferative syndrome |
| 77330006 | Chronic granulomatous disease, type II |
| 783254003 | Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome |
| 783617001 | Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency |
| 789777007 | Short-limb skeletal dysplasia with severe combined immunodeficiency |
| 7990002 | Immunoglobulinemia with isolated somatotropin deficiency |
| 82286005 | Hyperimmunoglobulin M syndrome |
| 82317007 | Chronic granulomatous disease, type III |
| 840472009 | Deficiency of immunoglobulin A with immunoglobulin G subclass deficiency |
| 86553008 | Immunosuppressive therapy |
| 9893005 | Immunodeficiency with thymoma |
Codes not in the full codelist are in faint grey.