Rare genetic, metabolic and autoimmune disease codes

Codelist metadata

Coding system

SNOMED CT

Coding system release

39.2.0

Organisation

NHSD Primary Care Domain Refsets

Codelist ID

nhsd-primary-care-domain-refsets/c19rgmadiag_cod

Version Tag

20241205

Version ID

64cdacaa

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 due to radiotherapy
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
1148692008 Radiation therapy following chemotherapy
1153413001 Acute sequestration of spleen due to sickle cell thalassemia with crisis
1153415008 Acute sequestration of spleen due to sickle cell hemoglobin C disease with crisis
1156505006 External beam radiation therapy using carbon ions
1156506007 External beam radiation therapy using photons
1156524009 Intensity modulated external beam neutron radiation therapy
1156525005 Mixed beam external beam radiation therapy
1156526006 Two dimensional external beam radiation therapy
1156528007 External beam radiation therapy using particle spot scanning technique
1156529004 External beam radiation therapy using particle passive scattering technique
11603001 Sickle cell retinopathy
1172966001 Multiple carboxylase deficiency
1177173001 Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
1179284005 Severe combined immunodeficiency due to linker for activation of T cells deficiency
1179285006 Combined immunodeficiency due to moesin deficiency
1179286007 Combined immunodeficiency due to GINS complex subunit 1 deficiency
1179288008 Combined immunodeficiency due to transferrin receptor deficiency
1179300002 B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease
1184703009 Periodontitis due to infantile genetic agranulocytosis
1186712009 Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency
1186714005 Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency
1186715006 Combined immunodeficiency due to CD70 deficiency
1186965009 Periodontitis exacerbated by cyclical neutropenia
1187148008 Periodontitis exacerbated by Chédiak-Higashi syndrome
118791000119106 Aplastic anemia caused by antineoplastic agent
1197594000 Periodic fever, infantile enterocolitis, autoinflammatory syndrome
12240661000119103 Long term systemic steroid user
1229940001 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency
1229941002 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency
1229942009 Severe combined immunodeficiency due to coronin 1A deficiency
123617004 Fleckmilz
123772008 Homozygous hemoglobinopathy
123777002 Autoimmune leukopenia
1269442001 Baricitinib therapy
1269443006 Belantamab mafodotin therapy
1269444000 Belatacept therapy
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
1285021005 Fanconi anemia of complementation group C
1285514002 Nonproliferative retinopathy due to sickle cell 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
16890821000119107 Long-term current use of ixekizumab
169335009 External beam - surgery with chemotherapy
169336005 External beam radiation therapy with chemotherapy
169401007 Radiochemotherapy: for immunosuppression
174236121000119109 Long-term current use of baricitinib
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
234511009 Post-splenectomy disorder
234512002 Post-splenectomy thrombocytosis
234513007 Post-splenectomy leukocytosis
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
253336000 Isomerism of right atrial appendage
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
328371000119107 Pancytopenia caused by antithyroid drug
328381000119105 Pancytopenia caused by anticonvulsant
33374000 Familial hemophagocytic lymphohistiocytosis
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 preoperative chemotherapy and radiotherapy
394935005 Combined postoperative 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
405165221000119107 Long-term current use of belantamab mafodotin
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 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
420244003 Encephalitis with acquired immunodeficiency syndrome
420281004 Skin rash with acquired immunodeficiency syndrome
420302007 Reticulosarcoma with acquired immunodeficiency syndrome
420308006 Retinal vascular changes with acquired immunodeficiency syndrome
420321004 Intestinal malabsorption with acquired immunodeficiency syndrome
420384005 Hematopoietic system disease with acquired immunodeficiency syndrome
420395004 Acute endocarditis with acquired immunodeficiency syndrome
420403001 Pneumocystosis with acquired immunodeficiency syndrome
420452002 Myelopathy with acquired immunodeficiency syndrome
420524008 Kaposi's sarcoma with acquired immunodeficiency syndrome
420544002 Bacterial pneumonia with acquired immunodeficiency syndrome
420549007 Salivary gland disease with acquired immunodeficiency syndrome
420554003 Progressive multifocal leukoencephalopathy with acquired immunodeficiency syndrome
420658009 Radiculitis with acquired immunodeficiency syndrome
420691000 Nutritional deficiency with acquired immunodeficiency syndrome
420718004 Central nervous system demyelinating disease with acquired immunodeficiency syndrome
420721002 Acquired immunodeficiency syndrome-associated disorder
420764009 Salmonella infection with acquired immunodeficiency syndrome
420787001 Pneumococcal pneumonia with acquired immunodeficiency syndrome
420801006 Malaise with acquired immunodeficiency syndrome
420818005 Mycobacteriosis with acquired immunodeficiency syndrome
420877009 Dermatomycosis with acquired immunodeficiency syndrome
420938005 Subacute endocarditis with acquired immunodeficiency syndrome
420945005 Histoplasmosis with acquired immunodeficiency syndrome
421023003 Presenile dementia with acquired immunodeficiency syndrome
421047005 Candidiasis of lung with acquired immunodeficiency syndrome
421077004 Disseminated candidiasis with acquired immunodeficiency syndrome
421102007 Aplastic anemia with acquired immunodeficiency syndrome
421230000 Hepatomegaly with acquired immunodeficiency syndrome
421272004 Subacute myocarditis with acquired immunodeficiency syndrome
421283008 Primary lymphoma of brain with acquired immunodeficiency syndrome
421312009 Agranulocytosis with acquired immunodeficiency syndrome
421315006 Myelitis with acquired immunodeficiency syndrome
421394009 Skin disorder with acquired immunodeficiency syndrome
421403008 Cryptococcosis with acquired immunodeficiency syndrome
421415007 Subacute adenoviral encephalitis with acquired immunodeficiency syndrome
421431004 Nocardiosis with acquired immunodeficiency syndrome
421454008 Infectious gastroenteritis with acquired immunodeficiency syndrome
421508002 Viral pneumonia with acquired immunodeficiency syndrome
421529006 Dementia with acquired immunodeficiency syndrome
421571007 Tuberculosis with acquired immunodeficiency syndrome
421597001 Polyneuropathy with acquired immunodeficiency syndrome
421660003 Failure to thrive in infant with acquired immunodeficiency syndrome
421671002 Pneumonia with acquired immunodeficiency syndrome
421706001 Blindness with acquired immunodeficiency syndrome
421708000 Infective arthritis with acquired immunodeficiency syndrome
421710003 Candidiasis of mouth with acquired immunodeficiency syndrome
421766003 Thrombocytopenia with acquired immunodeficiency syndrome
421827003 Encephalopathy with acquired immunodeficiency syndrome
421874007 Respiratory disorder with acquired immunodeficiency syndrome
421883002 Strongyloidiasis with acquired immunodeficiency syndrome
421929001 Myocarditis with acquired immunodeficiency syndrome
421983003 Noninfectious gastroenteritis with acquired immunodeficiency syndrome
421998001 Central nervous disorder with acquired immunodeficiency syndrome
422003001 Cachexia associated with acquired immunodeficiency syndrome
422012004 Neuritis with acquired immunodeficiency syndrome
422089004 Encephalomyelitis with acquired immunodeficiency syndrome
422127002 Herpes zoster with acquired immunodeficiency syndrome
422136003 Neuralgia with acquired immunodeficiency syndrome
422177004 Dyspnea with acquired immunodeficiency syndrome
422189002 Low vision with acquired immunodeficiency syndrome
422194002 Hyperhidrosis with acquired immunodeficiency syndrome
422282000 Malignant neoplasm with acquired immunodeficiency syndrome
422337001 Coccidioidomycosis 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
445945000 Infectious disease with acquired immune deficiency syndrome
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
483574341000119108 Long-term current use of upadacitinib
49555001 Severe combined immunodeficiency due to absent T cell receptor
50926003 Job's syndrome
55602000 Nezelof's syndrome
584833311000119102 Long-term current use of guselkumab
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
672611000119100 Long-term current use of telaprevir
697919000 Pulmonary hypertension due to post-splenectomy hematological disorder
697965002 Cholangitis with acquired immunodeficiency syndrome
700050004 Overwhelming infection in asplenic patient
700051000 Sepsis in asplenic subject
700052007 Post-splenectomy sepsis
700053002 Sepsis with acquired immunodeficiency syndrome
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
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
724639003 Asplenia following surgical procedure
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
770625006 Combined immunodeficiency with faciooculoskeletal anomalies syndrome
77121009 X-linked lymphoproliferative syndrome
771479000 Combined immunodeficiency due to serine/threonine kinase 4 deficiency
771517009 Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency
77330006 Chronic granulomatous disease, type II
773404000 Roifman syndrome
782708002 Everolimus therapy
782710000 Natalizumab therapy
782711001 Secukinumab therapy
782712008 Vedolizumab therapy
782751003 Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency
783254003 Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome
783617001 Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency
783743009 Combined immunodeficiency with granulomatosis
784340000 Combined immunodeficiency due to interleukin 21 receptor 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
836671891000119108 Long-term current use of belatacept
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.