Primary immunodeficiency disorder codes
Metadata
- Coding system
- SNOMED CT (UK Clinical Edition)
- Coding system release
- 41.0.0
- Organisation
- NHSD Primary Care Domain Refsets
- Codelist ID
- nhsd-primary-care-domain-refsets/primimmdef_cod
- Version Tag
- 20250912
- Version ID
- 30e9749b
- Number of codes included
- 344
About
Description
Taken from the `PRIMIMMDEF_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/).
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 |
|---|---|
| 1003381002 | Onycho-tricho-dysplasia neutropenia syndrome |
| 1050951000000106 | Immunoglobulin G4 deficiency |
| 111396008 | Chédiak-Higashi syndrome |
| 111584000 | Reticular dysgenesis |
| 111587007 | Severe combined immunodeficiency due to absent interleukin-2 receptor |
| 116133005 | Congenital agammaglobulinemia |
| 1162263002 | Complement component 8 deficiency |
| 1172892009 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation |
| 1172895006 | Mendelian susceptibility to mycobacterial disease |
| 1173999006 | Interleukin 21 related infantile inflammatory bowel disease |
| 1177173001 | Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome |
| 1177175008 | Skeletal dysplasia, T-cell immunodeficiency, developmental delay 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 |
| 1186654001 | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome |
| 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 |
| 1186719000 | Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency |
| 1186720006 | CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome |
| 1186725001 | Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome |
| 1187623009 | Phosphoglucomutase 3-related congenital disorder of glycosylation |
| 1197205005 | Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency |
| 1197361002 | Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency |
| 1197366007 | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity |
| 1197415001 | Susceptibility to infection due to tyrosine kinase 2 deficiency |
| 1197428008 | Combined immunodeficiency, enteropathy spectrum |
| 1197477000 | Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency |
| 1197478005 | Primary immunodeficiency with multifaceted aberrant lymphoid immunity |
| 1197479002 | Dedicator of cytokinesis 2 deficiency |
| 1197594000 | Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
| 1209075008 | Periodontitis due to congenital neutropenia |
| 1222681008 | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome |
| 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 |
| 1230295000 | B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome |
| 1234831009 | Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome |
| 124950009 | Deficiency of immunoglobulin |
| 1251449006 | Ubiquitin specific peptidase 18 deficiency |
| 12631000119106 | Immunoglobulin G deficiency |
| 1269234000 | Predisposition to severe viral infection due to interferon regulatory factor 7 deficiency |
| 1269277004 | Leukocyte adhesion deficiency type 3 |
| 1279842008 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency |
| 1279887007 | Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome |
| 129643009 | Chronic hypoplastic neutropenia |
| 1297036006 | Autosomal recessive agammaglobulinemia |
| 16894671000119102 | Immunoglobulin G deficiency due to monoclonal gammopathy of undetermined significance |
| 17182001 | Agranulocytosis |
| 190983003 | Hypogammaglobulinaemia: [congenital] or [agammaglobulinaemia: (Bruton's) or (congenital sex-linked & [X-linked])] |
| 190993005 | Autosomal recessive severe combined immunodeficiency |
| 190994004 | (Severe combined immunodeficiency) or (Swiss type agammaglobulinaemia) |
| 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 | Immunodeficiency by defective expression of major histocompatibility complex class II |
| 191003005 | Combined immunity deficiency NOS |
| 191007006 | Severe combined immunodeficiency with short-limbed dwarfism |
| 191010004 | Common variable immunodeficiency |
| 191011000 | Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions |
| 191012007 | Common variable immunodeficiency with predominant immunoregulatory T-cell disorders |
| 191013002 | Common variable immunodeficiency with autoantibodies to B- or T-cells |
| 191030000 | [X]Immunodeficiency associated with major defect, unspecified |
| 191031001 | [X]Other common variable immunodeficiencies |
| 191347008 | Cyclical neutropenia |
| 191349006 | Other specified agranulocytosis |
| 191350006 | Agranulocytosis NOS |
| 191352003 | Congenital dysphagocytosis |
| 191355001 | Polymorphonuclear neutrophil disorder NOS |
| 192783000 | Schultz disease |
| 192801000000104 | Schwachman's syndrome |
| 203592006 | X-linked severe combined immunodeficiency |
| 21527007 | Chronic granulomatous disease, type IV |
| 22406001 | Severe combined immunodeficiency due to absent lymphoid stem cells |
| 23238000 | Common variable agammaglobulinemia |
| 234415003 | Congenital agranulocytosis NEC |
| 234416002 | X-linked hypogammaglobulinemia |
| 234430007 | CR3-receptor deficiency |
| 234433009 | Myeloperoxidase deficiency |
| 234533006 | X-linked agammaglobulinemia with growth hormone deficiency |
| 234534000 | Autosomal agammaglobulinemia with absent B-cells |
| 234539005 | Immunoglobulin heavy chain deficiency |
| 234542004 | Selective immunoglobulin M and immunoglobulin A deficiency |
| 234543009 | Immunoglobulin light chain deficiency |
| 234544003 | Immunoglobulin subclass deficiency |
| 234546001 | Immunoglobulin G2 deficiency |
| 234548000 | Immunoglobulin G3 deficiency |
| 234549008 | Immunoglobulin G4 deficiency |
| 234550008 | Immunoglobulin G1 deficiency |
| 234551007 | Immunoglobulin A1 deficiency |
| 234552000 | Immunoglobulin A2 deficiency |
| 234553005 | Immunoglobulin-associated molecule deficiency |
| 234555003 | Defective immunoglobulin glycosylation |
| 234556002 | Specific antibody deficiency |
| 234557006 | Anti-polysaccharide antibody deficiency |
| 234558001 | Anti-Haemophilus influenzae type b capsular polysaccharide antibody deficiency |
| 234559009 | Anti-pneumococcal polysaccharide antibody deficiency |
| 234560004 | Anti-meningococcal polysaccharide A antibody deficiency |
| 234561000 | Anti-meningococcal polysaccharide C antibody deficiency |
| 234562007 | Anti-protein antibody deficiency |
| 234563002 | Anti-staphylococcal antibody deficiency |
| 234564008 | Primary immunoglobulin catabolism abnormality |
| 234565009 | Immunoglobulin hypercatabolism |
| 234569003 | X-linked severe combined immunodeficiency |
| 234570002 | Severe combined immunodeficiency with maternofetal engraftment |
| 234571003 | Warts, hypogammaglobulinemia, infections, and myelokathexis |
| 234573000 | Phagocytic cell defect |
| 234577004 | Lipochrome histiocytosis - familial |
| 234578009 | Defective phagocytic cell opsonization |
| 234579001 | Mannan-binding protein deficiency |
| 234580003 | Defective phagocytic cell chemotaxis |
| 234581004 | Defective phagocytic cell adhesion |
| 234582006 | Leukocyte adhesion deficiency - type 1 |
| 234583001 | Leukocyte adhesion deficiency - type 2 |
| 234585008 | Defective phagocytic cell killing |
| 234586009 | Leukocyte glucose-6-phosphate dehydrogenase deficiency |
| 234587000 | Neutrophil lactoferrin deficiency |
| 234588005 | Neutrophil secondary granule deficiency |
| 234591005 | Combined phagocytic defect |
| 234593008 | Classical complement pathway abnormality |
| 234594002 | Complement 1q deficiency |
| 234595001 | Complement 1q beta chain deficiency |
| 234596000 | Complement 1q dysfunction |
| 234597009 | Complement 1r deficiency |
| 234598004 | Complement 1s deficiency |
| 234599007 | Complement 2 deficiency |
| 234600005 | Complement 4 deficiency |
| 234601009 | Complement 4A deficiency |
| 234602002 | Complement 4B deficiency |
| 234603007 | Complement 3 deficiency |
| 234604001 | Alternative pathway deficiency |
| 234605000 | Factor B deficiency |
| 234607008 | Factor D deficiency |
| 234608003 | Terminal component deficiency |
| 234609006 | Complement 5 deficiency |
| 234611002 | Complement 6 deficiency |
| 234612009 | Complement 7 deficiency |
| 234613004 | Combined complement 6 and 7 deficiencies |
| 234614005 | Complement 8 beta chain deficiency |
| 234615006 | Complement 8 beta chain dysfunction |
| 234616007 | Complement 8 alpha-gamma deficiency |
| 234617003 | Complement 9 deficiency |
| 234618008 | Complement regulatory factor defect |
| 234621005 | Factor I deficiency |
| 234623008 | Complement 4 binding protein deficiency |
| 234626000 | Complement 5a inhibitor deficiency |
| 234628004 | Complement receptor deficiency |
| 234629007 | Complement receptor 1 deficiency |
| 234630002 | Complement receptor 3 deficiency |
| 234631003 | Immunodeficiency with major anomalies |
| 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 |
| 237618001 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| 24743004 | Complement deficiency disease |
| 24974008 | Myelokathexis |
| 25109007 | Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome |
| 254067002 | Immuno-osseous dysplasia |
| 26252007 | Chronic granulomatous disease, type IIA |
| 263661007 | Complement 5 dysfunction |
| 267538002 | Agranulocytopenic disorder |
| 29260007 | Immunoglobulin A deficiency |
| 29272001 | Chronic granulomatous disease, type I |
| 302874002 | Phagocytic cell dysfunction |
| 31323000 | Severe combined immunodeficiency disease |
| 33374000 | Familial hemophagocytic lymphohistiocytosis |
| 3439009 | Severe combined immunodeficiency due to absent peripheral T cell maturation |
| 350353007 | De Vaal's syndrome |
| 351287008 | Reticular dysgenesis with congenital aleukocytosis |
| 36070007 | Wiskott-Aldrich syndrome |
| 362993009 | Autosomal recessive severe combined immunodeficiency disease |
| 363265005 | Predominant humoral immune deficiency |
| 36980009 | Severe combined immunodeficiency due to absent adenosine deaminase |
| 37548006 | Hypopigmentation-immunodeficiency disease |
| 387759001 | Chronic granulomatous disease |
| 39674000 | Familial C3B inhibitor deficiency syndrome |
| 398250003 | Familial hemophagocytic lymphohistiocytosis |
| 40197009 | Chronic granulomatous disease, type IA |
| 403835002 | X-linked hyper-immunoglobulin M syndrome |
| 403836001 | Autosomal recessive hyperimmunoglobulin M syndrome |
| 403837005 | Wiskott-Aldrich autosomal dominant variant syndrome |
| 411421000000102 | [X]Immunodeficiency associated with major defect, unspecified |
| 411431000000100 | [X]Other common variable immunodeficiencies |
| 417167007 | Immunoglobulin deficiency |
| 41814009 | Neutropenia with dysgranulopoiesis |
| 442459007 | Combined immunodeficiency disease |
| 4434006 | Bloom syndrome |
| 449187006 | Kappa light chain deficiency |
| 44940001 | Adenosine deaminase deficiency |
| 449853003 | Interleukin-12 deficiency |
| 45390000 | Severe combined immunodeficiency due to absent interleukin-2 production |
| 467901000000107 | [X]Immunodeficiency associated with major defect, unspecified |
| 49555001 | Severe combined immunodeficiency due to absent T cell receptor |
| 55602000 | Nezelof's syndrome |
| 571321000000109 | Other specified agranulocytosis |
| 58606001 | Primary immune deficiency disorder |
| 626051000000103 | Agranulocytosis NOS |
| 646621000000103 | Combined immunity deficiency NOS |
| 656561000000105 | Congenital agranulocytosis NEC |
| 65880007 | X-linked agammaglobulinemia |
| 660661000000101 | Polymorphonuclear neutrophil disorder NOS |
| 68504005 | Ataxia-telangiectasia syndrome |
| 69295006 | Cyclic neutropenia |
| 699869003 | Interleukin-1 receptor-associated kinase 4 deficiency |
| 703149000 | Periodontitis associated with cyclical neutropenia |
| 703406006 | Trichohepatoenteric syndrome |
| 703523004 | Spondyloenchondrodysplasia with immune dysregulation |
| 703525006 | Anhidrotic ectodermal dysplasia with immune deficiency |
| 703538003 | Mannose-binding lectin deficiency |
| 709465004 | Periodontitis co-occurrent with Chédiak-Higashi syndrome |
| 709535007 | Periodontitis co-occurrent with infantile genetic agranulocytosis |
| 710927004 | Periodontitis co-occurrent with cyclical neutropenia |
| 711480000 | Activated PI3K-delta syndrome |
| 71436005 | Periodic fever, immunodeficiency, thrombocytopenia syndrome |
| 715982006 | Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency |
| 716378008 | Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency |
| 716869006 | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency |
| 716871006 | Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency |
| 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 |
| 718230004 | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency |
| 718232007 | Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 |
| 718717004 | Primary immunodeficiency syndrome due to p14 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 |
| 719824001 | Vici syndrome |
| 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 |
| 720986005 | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome |
| 721876004 | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency |
| 721877008 | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency |
| 721903007 | Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
| 721977007 | Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome |
| 722067005 | Omenn syndrome |
| 722281001 | Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
| 722288007 | Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome |
| 722290008 | Autoimmune lymphoproliferative syndrome with recurrent viral infection |
| 723334006 | Immunodeficiency due to mutation of FAS-associated protein with death domain gene |
| 723384004 | Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency |
| 723385003 | Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency |
| 723386002 | Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency |
| 723443003 | Neutrophil immunodeficiency syndrome |
| 723508002 | RAS-associated autoimmune leukoproliferative disease |
| 723995003 | Schimke immuno-osseous dysplasia |
| 724177005 | Ligase 4 syndrome |
| 724179008 | Laron syndrome with immunodeficiency |
| 724275005 | Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency |
| 724276006 | X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome |
| 724361001 | Hepatic veno-occlusive disease with immunodeficiency syndrome |
| 724641002 | Primary hemophagocytic lymphohistiocytosis |
| 725135004 | Combined immunodeficiency due to CD3gamma deficiency |
| 725136003 | Immunodeficiency by defective expression of major histocompatibility complex class I |
| 725137007 | Neutropenia, monocytopenia, deafness syndrome |
| 725150008 | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency |
| 725151007 | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency |
| 725290000 | Combined immunodeficiency due to partial recombination-activating gene 1 deficiency |
| 725431001 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency |
| 725432008 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency |
| 76243000 | Chronic granulomatous disease, type IVA |
| 763623001 | Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency |
| 763668009 | Lichtenstein syndrome |
| 763713000 | Idiopathic CD4 lymphocytopenia |
| 764858009 | Isolated agammaglobulinemia |
| 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 |
| 766705006 | Immunodeficiency due to ficolin 3 deficiency |
| 766879006 | Combined immunodeficiency due to OX40 deficiency |
| 766983005 | Susceptibility to respiratory infection associated with CD8alpha chain mutation |
| 767263007 | 22q11.2 deletion syndrome |
| 768560008 | Melanoma differentiation-associated gene 5 deficiency |
| 770625006 | Combined immunodeficiency with faciooculoskeletal anomalies syndrome |
| 770687001 | Vasculitis due to adenosine deaminase 2 deficiency |
| 770785002 | T-cell immunodeficiency due to ras homolog family member H deficiency |
| 770942003 | Kostmann syndrome |
| 770947009 | Autosomal dominant severe congenital neutropenia |
| 771078002 | Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency |
| 77121009 | X-linked lymphoproliferative syndrome |
| 771333006 | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome |
| 771443008 | Complement component 3 deficiency |
| 771479000 | Combined immunodeficiency due to serine/threonine kinase 4 deficiency |
| 771515001 | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome |
| 771517009 | Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency |
| 772126000 | Poikiloderma with neutropenia |
| 77330006 | Chronic granulomatous disease, type II |
| 773404000 | Roifman syndrome |
| 773488000 | Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency |
| 77358003 | Congenital leukocyte adherence deficiency |
| 773646003 | Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation |
| 773662009 | Neonatal inflammatory skin and bowel disease |
| 773664005 | Deficiency in anterior pituitary function, variable immunodeficiency syndrome |
| 773730002 | Osteopetrosis hypogammaglobulinemia syndrome |
| 774211005 | Severe dermatitis, multiple allergies, metabolic wasting syndrome |
| 775909002 | Congenital neutropenia, myelofibrosis, nephromegaly syndrome |
| 778023004 | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency |
| 778024005 | Monocytopenia with susceptibility to infections |
| 778028008 | Immunodeficiency due to CD25 deficiency |
| 778045003 | Susceptibility to viral and mycobacterial infection |
| 782750002 | T-cell receptor alpha-beta-positive T-cell deficiency |
| 782751003 | Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency |
| 782759001 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia |
| 783007005 | Recurrent Neisseria infection due to factor D deficiency |
| 783058007 | Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency |
| 783099001 | Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome |
| 783142006 | Pancytopenia due to IKAROS family zinc finger 1 mutations |
| 783199003 | Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency |
| 783200000 | Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency |
| 783201001 | Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency |
| 783205005 | Alopecia antibody deficiency |
| 783245001 | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| 783248004 | Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection |
| 783249007 | Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection |
| 783617001 | Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency |
| 783621008 | Immunodeficiency with factor I anomaly |
| 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 |
| 81166004 | Properdin deficiency disease |
| 82286005 | Hyperimmunoglobulin M syndrome |
| 82317007 | Chronic granulomatous disease, type III |
| 829973009 | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
| 840472009 | Deficiency of immunoglobulin A with immunoglobulin G subclass deficiency |
| 89454001 | Shwachman syndrome |
| 89655007 | Congenital neutropenia |
| 938231000000103 | Mannan-binding protein deficiency |
| 987840791000119102 | Adenosine deaminase 2 deficiency |
| 9893005 | Immunodeficiency with thymoma |