Permanent Immunosuppression (SNOMED)

Codelist metadata

Coding system
SNOMED CT (UK Clinical Edition)
Coding system release
unknown
Organisation
OpenSAFELY
Codelist ID
opensafely/permanent-immunosuppression-snomed
Version Tag
2020-06-02
Version ID
55914b31

Versions

About

Description

Automatically-generated equivalent of Permanent Immunosuppression

Methodology

See code on GitHub


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.

Disorder

  • Status:
    Included
    Name:
    22q11.2 deletion syndrome
    Code:
    (767263007)
  • Status:
    Included
    Name:
    Alders syndrome
    Code:
    (234434003)
  • Status:
    Included
    Name:
    CR3-receptor deficiency
    Code:
    (234430007)
  • Status:
    Included
    Name:
    Chronic mucocutaneous candidiasis
    Code:
    (234568006)
    • Status:
      Excluded
      Name:
      Chronic acquired mucocutaneous candidiasis
      Code:
      (403001004)
    • Status:
      Excluded
      Name:
      Chronic atrophic candidosis
      Code:
      (359757004)
    • Status:
      Included
      Name:
      Chronic diffuse mucocutaneous candidiasis
      Code:
      (240719002)
    • Status:
      Included
      Name:
      Chronic localized mucocutaneous candidiasis
      Code:
      (240718005)
    • Status:
      Included
      Name:
      Familial chronic mucocutaneous candidiasis
      Code:
      (235073000)
      • Status:
        Excluded
        Name:
        Familial chronic mucocutaneous candidiasis - dominant type
        Code:
        (240714007)
      • Status:
        Included
        Name:
        Familial chronic mucocutaneous candidiasis - late onset type
        Code:
        (240717000)
      • Status:
        Excluded
        Name:
        Familial chronic mucocutaneous candidiasis - recessive type
        Code:
        (240716009)
    • Status:
      Excluded
      Name:
      Polyglandular autoimmune syndrome, type 1
      Code:
      (11244009)
  • Status:
    Included
    Name:
    Congenital absence of thymus
    Code:
    (91918005)
    • Status:
      Excluded
      Name:
      Aplasia of thymus
      Code:
      (702623002)
      • Status:
        Excluded
        Name:
        Agenesis of thymus
        Code:
        (1003550007)
      • Status:
        Included
        Name:
        Thymic aplasia or dysplasia with immunodeficiency
        Code:
        (190995003)
  • Status:
    Included
    Name:
    Hereditary angioedema
    Code:
    (82966003)
    • Status:
      Included
      Name:
      Hereditary C1 esterase inhibitor deficiency - deficient factor
      Code:
      (234619000)
    • Status:
      Included
      Name:
      Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
      Code:
      (234620006)
    • Status:
      Included
      Name:
      Hereditary angioedema with normal C1 esterase inhibitor activity
      Code:
      (427167008)
  • Status:
    Included
    Name:
    Hereditary hypersegmentation
    Code:
    (234435002)
  • Status:
    Included
    Name:
    Immune reconstitution syndrome
    Code:
    (426202004)
  • Status:
    Included
    Name:
    Immunodeficiency disorder
    Code:
    (234532001)
    • Status:
      Included
      Name:
      Adult-onset immunodeficiency
      Code:
      (735536003)
      • Status:
        Excluded
        Name:
        Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
        Code:
        (784393004)
    • Status:
      Included
      Name:
      Aplasia of thymus gland with immunodeficiency
      Code:
      (24181002)
    • Status:
      Included
      Name:
      B-lymphocyte immunodeficiency
      Code:
      (402791005)
    • Status:
      Included
      Name:
      Congenital immunodeficiency disease
      Code:
      (36138009)
      • Status:
        Included
        Name:
        Absent thumb with short stature and immunodeficiency syndrome
        Code:
        (719685004)
      • Status:
        Included
        Name:
        Anhidrotic ectodermal dysplasia with immune deficiency
        Code:
        (703525006)
      • Status:
        Included
        Name:
        Ataxia-telangiectasia syndrome
        Code:
        (68504005)
      • Status:
        Included
        Name:
        Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
        Code:
        (722288007)
      • Status:
        Included
        Name:
        Bloom syndrome
        Code:
        (4434006)
      • Status:
        Included
        Name:
        Chronic granulomatous disease
        Code:
        (387759001)
        • Status:
          Included
          Name:
          Chronic granulomatous disease, type I
          Code:
          (29272001)
        • Status:
          Included
          Name:
          Chronic granulomatous disease, type IA
          Code:
          (40197009)
        • Status:
          Included
          Name:
          Chronic granulomatous disease, type II
          Code:
          (77330006)
        • Status:
          Included
          Name:
          Chronic granulomatous disease, type IIA
          Code:
          (26252007)
        • Status:
          Included
          Name:
          Chronic granulomatous disease, type III
          Code:
          (82317007)
        • Status:
          Included
          Name:
          Chronic granulomatous disease, type IV
          Code:
          (21527007)
        • Status:
          Included
          Name:
          Chronic granulomatous disease, type IVA
          Code:
          (76243000)
      • Status:
        Excluded
        Name:
        Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
        Code:
        (703540008)
      • Status:
        Included
        Name:
        Chédiak-Higashi syndrome
        Code:
        (111396008)
        • Status:
          Included
          Name:
          Attenuated Chédiak-Higashi syndrome
          Code:
          (720520009)
        • Status:
          Included
          Name:
          Periodontitis co-occurrent with Chédiak-Higashi syndrome
          Code:
          (709465004)
      • Status:
        Included
        Name:
        Combined immunodeficiency due to OX40 deficiency
        Code:
        (766879006)
      • Status:
        Excluded
        Name:
        Combined immunodeficiency with faciooculoskeletal anomalies syndrome
        Code:
        (770625006)
      • Status:
        Included
        Name:
        Complement component deficiency
        Code:
        (363009005)
      • Status:
        Included
        Name:
        Congenital agammaglobulinemia
        Code:
        (116133005)
        • Status:
          Included
          Name:
          Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
          Code:
          (722281001)
        • Status:
          Included
          Name:
          Autosomal agammaglobulinemia with absent B-cells
          Code:
          (234534000)
        • Status:
          Included
          Name:
          Common variable agammaglobulinemia
          Code:
          (23238000)
          • Status:
            Included
            Name:
            Common variable immunodeficiency with autoantibodies to B- or T-cells
            Code:
            (191013002)
          • Status:
            Included
            Name:
            Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions
            Code:
            (191011000)
          • Status:
            Included
            Name:
            Common variable immunodeficiency with predominant immunoregulatory T-cell disorders
            Code:
            (191012007)
        • Status:
          Included
          Name:
          Isolated agammaglobulinemia
          Code:
          (764858009)
          • Status:
            Included
            Name:
            X-linked agammaglobulinemia
            Code:
            (65880007)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency due to absent lymphoid stem cells
          Code:
          (22406001)
        • Status:
          Included
          Name:
          X-linked agammaglobulinemia with growth hormone deficiency
          Code:
          (234533006)
      • Status:
        Included
        Name:
        Congenital hypergammaglobulinemia
        Code:
        (58034007)
        • Status:
          Included
          Name:
          Hyperimmunoglobulin M syndrome
          Code:
          (82286005)
          • Status:
            Included
            Name:
            Autosomal recessive hyperimmunoglobulin M syndrome
            Code:
            (403836001)
          • Status:
            Excluded
            Name:
            Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection
            Code:
            (783248004)
          • Status:
            Excluded
            Name:
            Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection
            Code:
            (783249007)
          • Status:
            Included
            Name:
            X-linked hyper-immunoglobulin M syndrome
            Code:
            (403835002)
        • Status:
          Included
          Name:
          Job's syndrome
          Code:
          (50926003)
      • Status:
        Included
        Name:
        Congenital immunodeficiency involving the hematopoietic system
        Code:
        (363040003)
      • Status:
        Included
        Name:
        Congenital leukocyte adherence deficiency
        Code:
        (77358003)
        • Status:
          Included
          Name:
          Leukocyte adhesion deficiency - type 1
          Code:
          (234582006)
        • Status:
          Included
          Name:
          Leukocyte adhesion deficiency - type 2
          Code:
          (234583001)
        • Status:
          Included
          Name:
          Periodontitis co-occurrent with leukocyte adhesion deficiency
          Code:
          (710735009)
      • Status:
        Included
        Name:
        Congenital neutropenia
        Code:
        (89655007)
        • Status:
          Excluded
          Name:
          Autosomal dominant severe congenital neutropenia
          Code:
          (770947009)
        • Status:
          Excluded
          Name:
          Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency
          Code:
          (783200000)
        • Status:
          Excluded
          Name:
          Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
          Code:
          (783201001)
        • Status:
          Excluded
          Name:
          Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
          Code:
          (783058007)
        • Status:
          Excluded
          Name:
          Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency
          Code:
          (783199003)
        • Status:
          Excluded
          Name:
          Congenital neutropenia, myelofibrosis, nephromegaly syndrome
          Code:
          (775909002)
        • Status:
          Excluded
          Name:
          Kostmann syndrome
          Code:
          (770942003)
        • Status:
          Included
          Name:
          Neutropenia, monocytopenia, deafness syndrome
          Code:
          (725137007)
        • Status:
          Excluded
          Name:
          Onycho-tricho-dysplasia neutropenia syndrome
          Code:
          (1003381002)
        • Status:
          Included
          Name:
          Periodontitis co-occurrent with infantile genetic agranulocytosis
          Code:
          (709535007)
        • Status:
          Included
          Name:
          Reticular dysgenesis
          Code:
          (111584000)
          • Status:
            Included
            Name:
            De Vaal's syndrome
            Code:
            (350353007)
          • Status:
            Included
            Name:
            Reticular dysgenesis with congenital aleukocytosis
            Code:
            (351287008)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency with reticular dysgenesis
          Code:
          (190996002)
        • Status:
          Included
          Name:
          Shwachman syndrome
          Code:
          (89454001)
        • Status:
          Excluded
          Name:
          X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
          Code:
          (782759001)
        • Status:
          Included
          Name:
          X-linked severe congenital neutropenia
          Code:
          (718882006)
      • Status:
        Included
        Name:
        Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
        Code:
        (765327005)
      • Status:
        Included
        Name:
        Constitutional mismatch repair deficiency syndrome
        Code:
        (764946008)
      • Status:
        Excluded
        Name:
        Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
        Code:
        (771515001)
      • Status:
        Excluded
        Name:
        Hennekam lymphangiectasia-lymphedema syndrome
        Code:
        (234146006)
      • Status:
        Included
        Name:
        Hypopigmentation-immunodeficiency disease
        Code:
        (37548006)
      • Status:
        Included
        Name:
        Immuno-osseous dysplasia
        Code:
        (254067002)
        • Status:
          Excluded
          Name:
          Roifman syndrome
          Code:
          (773404000)
        • Status:
          Included
          Name:
          Schimke immuno-osseous dysplasia
          Code:
          (723995003)
      • Status:
        Included
        Name:
        Immunodeficiency due to ficolin 3 deficiency
        Code:
        (766705006)
      • Status:
        Included
        Name:
        Immunodeficiency with multicarboxylase deficiency
        Code:
        (402483002)
      • Status:
        Included
        Name:
        Lichtenstein syndrome
        Code:
        (763668009)
      • Status:
        Included
        Name:
        Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency
        Code:
        (304576008)
      • Status:
        Included
        Name:
        Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
        Code:
        (721903007)
      • Status:
        Excluded
        Name:
        Monocytopenia with susceptibility to infections
        Code:
        (778024005)
      • Status:
        Excluded
        Name:
        Osteopetrosis hypogammaglobulinemia syndrome
        Code:
        (773730002)
      • Status:
        Included
        Name:
        Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
        Code:
        (724275005)
      • Status:
        Included
        Name:
        Purine-nucleoside phosphorylase deficiency
        Code:
        (60743005)
      • Status:
        Excluded
        Name:
        Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome
        Code:
        (783099001)
      • Status:
        Included
        Name:
        Severe combined immunodeficiency disease
        Code:
        (31323000)
        • Status:
          Included
          Name:
          Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
          Code:
          (720986005)
        • Status:
          Included
          Name:
          Autosomal recessive severe combined immunodeficiency disease
          Code:
          (362993009)
          • Status:
            Included
            Name:
            Adenosine deaminase deficiency
            Code:
            (44940001)
          • Status:
            Included
            Name:
            Autosomal recessive severe combined immunodeficiency
            Code:
            (190993005)
          • Status:
            Included
            Name:
            Combined immunodeficiency due to CD3gamma deficiency
            Code:
            (725135004)
          • Status:
            Included
            Name:
            Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency
            Code:
            (716378008)
          • Status:
            Included
            Name:
            Combined immunodeficiency due to partial recombination-activating gene 1 deficiency
            Code:
            (725290000)
          • Status:
            Included
            Name:
            Hepatic veno-occlusive disease with immunodeficiency syndrome
            Code:
            (724361001)
          • Status:
            Included
            Name:
            Immunodeficiency by defective expression of human leukocyte antigen class 1
            Code:
            (725136003)
          • Status:
            Included
            Name:
            Ligase 4 syndrome
            Code:
            (724177005)
          • Status:
            Included
            Name:
            Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome
            Code:
            (721977007)
          • Status:
            Included
            Name:
            Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
            Code:
            (720345008)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency
            Code:
            (718107000)
          • Status:
            Excluded
            Name:
            Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency
            Code:
            (771517009)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency
            Code:
            (763623001)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency
            Code:
            (715982006)
          • Status:
            Excluded
            Name:
            Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency
            Code:
            (782751003)
          • Status:
            Excluded
            Name:
            Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency
            Code:
            (783617001)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency with hypereosinophilia
            Code:
            (722067005)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
            Code:
            (720853005)
          • Status:
            Excluded
            Name:
            Short-limb skeletal dysplasia with severe combined immunodeficiency
            Code:
            (789777007)
        • Status:
          Included
          Name:
          Major histocompatibility complex class I deficiency
          Code:
          (191001007)
        • Status:
          Included
          Name:
          Major histocompatibility complex class II deficiency
          Code:
          (191002000)
        • Status:
          Included
          Name:
          Nezelof's syndrome
          Code:
          (55602000)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency due to absent T cell receptor
          Code:
          (49555001)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency due to absent adenosine deaminase
          Code:
          (36980009)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency due to absent class II human leukocyte antigens
          Code:
          (71904008)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency due to absent interleukin-2 production
          Code:
          (45390000)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency due to absent interleukin-2 receptor
          Code:
          (111587007)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency due to absent lymphoid stem cells
          Code:
          (22406001)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency due to absent peripheral T cell maturation
          Code:
          (3439009)
          • Status:
            Included
            Name:
            Reticular dysgenesis
            Code:
            (111584000)
            • Status:
              Included
              Name:
              De Vaal's syndrome
              Code:
              (350353007)
            • Status:
              Included
              Name:
              Reticular dysgenesis with congenital aleukocytosis
              Code:
              (351287008)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency with reticular dysgenesis
            Code:
            (190996002)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency
          Code:
          (716871006)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency with low T- and B-cell numbers
          Code:
          (190997006)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency
            Code:
            (765188009)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency
            Code:
            (763623001)
          • Status:
            Excluded
            Name:
            Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency
            Code:
            (783617001)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency with hypereosinophilia
            Code:
            (722067005)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
            Code:
            (720853005)
          • Status:
            Excluded
            Name:
            Short-limb skeletal dysplasia with severe combined immunodeficiency
            Code:
            (789777007)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency with low or normal B-cell numbers
          Code:
          (190998001)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency with maternofetal engraftment
          Code:
          (234570002)
        • Status:
          Included
          Name:
          T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency
          Code:
          (765145001)
        • Status:
          Included
          Name:
          Warts, hypogammaglobulinemia, infections, and myelokathexis
          Code:
          (234571003)
      • Status:
        Excluded
        Name:
        Severe dermatitis, multiple allergies, metabolic wasting syndrome
        Code:
        (774211005)
      • Status:
        Excluded
        Name:
        Sterile multifocal osteomyelitis with periostitis and pustulosis
        Code:
        (773702002)
      • Status:
        Excluded
        Name:
        Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency
        Code:
        (778023004)
      • Status:
        Included
        Name:
        Thymic aplasia or dysplasia with immunodeficiency
        Code:
        (190995003)
      • Status:
        Included
        Name:
        Vici syndrome
        Code:
        (719824001)
      • Status:
        Included
        Name:
        Wiskott-Aldrich syndrome
        Code:
        (36070007)
        • Status:
          Included
          Name:
          Wiskott-Aldrich autosomal dominant variant syndrome
          Code:
          (403837005)
      • Status:
        Included
        Name:
        X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
        Code:
        (724276006)
    • Status:
      Included
      Name:
      Dysplasia of thymus gland with immunodeficiency
      Code:
      (48119005)
    • Status:
      Included
      Name:
      Immunodeficiency with thymoma
      Code:
      (9893005)
    • Status:
      Included
      Name:
      Lymphocyte function antigen-1 defect
      Code:
      (191018006)
    • Status:
      Included
      Name:
      Natural-killer cell deficiency
      Code:
      (737307003)
    • Status:
      Included
      Name:
      Phagocytic immunodeficiency
      Code:
      (707152007)
    • Status:
      Included
      Name:
      Primary immune deficiency disorder
      Code:
      (58606001)
      • Status:
        Included
        Name:
        Activated PI3K-delta syndrome
        Code:
        (711480000)
      • Status:
        Excluded
        Name:
        Autoimmune lymphoproliferative syndrome
        Code:
        (702444009)
      • Status:
        Excluded
        Name:
        Blau syndrome
        Code:
        (818950005)
        • Status:
          Included
          Name:
          Familial granulomatous inflammatory arthritis, dermatitis and uveitis
          Code:
          (699861000)
        • Status:
          Included
          Name:
          Sporadic Blau syndrome
          Code:
          (726078000)
      • Status:
        Excluded
        Name:
        Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
        Code:
        (703540008)
      • Status:
        Included
        Name:
        Combined immunodeficiency disease
        Code:
        (442459007)
        • Status:
          Included
          Name:
          Absent thumb with short stature and immunodeficiency syndrome
          Code:
          (719685004)
        • Status:
          Excluded
          Name:
          Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
          Code:
          (829973009)
        • Status:
          Excluded
          Name:
          Autosomal recessive lymphoproliferative disease
          Code:
          (771309000)
        • Status:
          Included
          Name:
          Benign combined immunodeficiency
          Code:
          (234572005)
        • Status:
          Included
          Name:
          Combined immunodeficiency due to OX40 deficiency
          Code:
          (766879006)
        • Status:
          Included
          Name:
          Combined immunodeficiency due to calcium release activated calcium channel dysfunction
          Code:
          (717811007)
        • Status:
          Excluded
          Name:
          Combined immunodeficiency due to interleukin 21 receptor deficiency
          Code:
          (784340000)
        • Status:
          Excluded
          Name:
          Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency
          Code:
          (773488000)
        • Status:
          Excluded
          Name:
          Combined immunodeficiency due to serine/threonine kinase 4 deficiency
          Code:
          (771479000)
        • Status:
          Excluded
          Name:
          Combined immunodeficiency with faciooculoskeletal anomalies syndrome
          Code:
          (770625006)
        • Status:
          Excluded
          Name:
          Combined immunodeficiency with granulomatosis
          Code:
          (783743009)
        • Status:
          Excluded
          Name:
          Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
          Code:
          (771515001)
        • Status:
          Excluded
          Name:
          Hennekam lymphangiectasia-lymphedema syndrome
          Code:
          (234146006)
        • Status:
          Excluded
          Name:
          Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection
          Code:
          (783248004)
        • Status:
          Excluded
          Name:
          Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection
          Code:
          (783249007)
        • Status:
          Included
          Name:
          Immuno-osseous dysplasia
          Code:
          (254067002)
          • Status:
            Excluded
            Name:
            Roifman syndrome
            Code:
            (773404000)
          • Status:
            Included
            Name:
            Schimke immuno-osseous dysplasia
            Code:
            (723995003)
        • Status:
          Included
          Name:
          Laron syndrome with immunodeficiency
          Code:
          (724179008)
        • Status:
          Excluded
          Name:
          Pancytopenia due to IKAROS family zinc finger 1 mutations
          Code:
          (783142006)
        • Status:
          Included
          Name:
          Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
          Code:
          (724275005)
        • Status:
          Excluded
          Name:
          Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome
          Code:
          (783099001)
        • Status:
          Included
          Name:
          Severe combined immunodeficiency disease
          Code:
          (31323000)
          • Status:
            Included
            Name:
            Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
            Code:
            (720986005)
          • Status:
            Included
            Name:
            Autosomal recessive severe combined immunodeficiency disease
            Code:
            (362993009)
            • Status:
              Included
              Name:
              Adenosine deaminase deficiency
              Code:
              (44940001)
            • Status:
              Included
              Name:
              Autosomal recessive severe combined immunodeficiency
              Code:
              (190993005)
            • Status:
              Included
              Name:
              Combined immunodeficiency due to CD3gamma deficiency
              Code:
              (725135004)
            • Status:
              Included
              Name:
              Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency
              Code:
              (716378008)
            • Status:
              Included
              Name:
              Combined immunodeficiency due to partial recombination-activating gene 1 deficiency
              Code:
              (725290000)
            • Status:
              Included
              Name:
              Hepatic veno-occlusive disease with immunodeficiency syndrome
              Code:
              (724361001)
            • Status:
              Included
              Name:
              Immunodeficiency by defective expression of human leukocyte antigen class 1
              Code:
              (725136003)
            • Status:
              Included
              Name:
              Ligase 4 syndrome
              Code:
              (724177005)
            • Status:
              Included
              Name:
              Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome
              Code:
              (721977007)
            • Status:
              Included
              Name:
              Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
              Code:
              (720345008)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency
              Code:
              (718107000)
            • Status:
              Excluded
              Name:
              Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency
              Code:
              (771517009)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency
              Code:
              (763623001)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency
              Code:
              (715982006)
            • Status:
              Excluded
              Name:
              Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency
              Code:
              (782751003)
            • Status:
              Excluded
              Name:
              Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency
              Code:
              (783617001)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency with hypereosinophilia
              Code:
              (722067005)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
              Code:
              (720853005)
            • Status:
              Excluded
              Name:
              Short-limb skeletal dysplasia with severe combined immunodeficiency
              Code:
              (789777007)
          • Status:
            Included
            Name:
            Major histocompatibility complex class I deficiency
            Code:
            (191001007)
          • Status:
            Included
            Name:
            Major histocompatibility complex class II deficiency
            Code:
            (191002000)
          • Status:
            Included
            Name:
            Nezelof's syndrome
            Code:
            (55602000)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to absent T cell receptor
            Code:
            (49555001)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to absent adenosine deaminase
            Code:
            (36980009)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to absent class II human leukocyte antigens
            Code:
            (71904008)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to absent interleukin-2 production
            Code:
            (45390000)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to absent interleukin-2 receptor
            Code:
            (111587007)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to absent lymphoid stem cells
            Code:
            (22406001)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to absent peripheral T cell maturation
            Code:
            (3439009)
            • Status:
              Included
              Name:
              Reticular dysgenesis
              Code:
              (111584000)
              • Status:
                Included
                Name:
                De Vaal's syndrome
                Code:
                (350353007)
              • Status:
                Included
                Name:
                Reticular dysgenesis with congenital aleukocytosis
                Code:
                (351287008)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency with reticular dysgenesis
              Code:
              (190996002)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency
            Code:
            (716871006)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency with low T- and B-cell numbers
            Code:
            (190997006)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency
              Code:
              (765188009)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency
              Code:
              (763623001)
            • Status:
              Excluded
              Name:
              Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency
              Code:
              (783617001)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency with hypereosinophilia
              Code:
              (722067005)
            • Status:
              Included
              Name:
              Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
              Code:
              (720853005)
            • Status:
              Excluded
              Name:
              Short-limb skeletal dysplasia with severe combined immunodeficiency
              Code:
              (789777007)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency with low or normal B-cell numbers
            Code:
            (190998001)
          • Status:
            Included
            Name:
            Severe combined immunodeficiency with maternofetal engraftment
            Code:
            (234570002)
          • Status:
            Included
            Name:
            T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency
            Code:
            (765145001)
          • Status:
            Included
            Name:
            Warts, hypogammaglobulinemia, infections, and myelokathexis
            Code:
            (234571003)
        • Status:
          Excluded
          Name:
          Severe dermatitis, multiple allergies, metabolic wasting syndrome
          Code:
          (774211005)
        • Status:
          Included
          Name:
          Susceptibility to respiratory infection associated with CD8alpha chain mutation
          Code:
          (766983005)
        • Status:
          Excluded
          Name:
          T-cell receptor alpha-beta-positive T-cell deficiency
          Code:
          (782750002)
        • Status:
          Included
          Name:
          Vici syndrome
          Code:
          (719824001)
      • Status:
        Excluded
        Name:
        Deficiency in anterior pituitary function, variable immunodeficiency syndrome
        Code:
        (773664005)
      • Status:
        Excluded
        Name:
        Deficiency of interleukin 36 receptor antagonist
        Code:
        (784339002)
      • Status:
        Included
        Name:
        Disorder of complement
        Code:
        (24419001)
        • Status:
          Included
          Name:
          Complement abnormality
          Code:
          (18827005)
        • Status:
          Included
          Name:
          Complement deficiency disease
          Code:
          (24743004)
          • Status:
            Included
            Name:
            Alternative pathway deficiency
            Code:
            (234604001)
            • Status:
              Included
              Name:
              Factor B deficiency
              Code:
              (234605000)
            • Status:
              Included
              Name:
              Factor D deficiency
              Code:
              (234607008)
            • Status:
              Included
              Name:
              Properdin deficiency disease
              Code:
              (81166004)
          • Status:
            Included
            Name:
            Classical complement pathway abnormality
            Code:
            (234593008)
            • Status:
              Included
              Name:
              Complement 1q deficiency
              Code:
              (234594002)
              • Status:
                Included
                Name:
                Complement 1q beta chain deficiency
                Code:
                (234595001)
              • Status:
                Included
                Name:
                Complement 1q dysfunction
                Code:
                (234596000)
            • Status:
              Included
              Name:
              Complement 1r deficiency
              Code:
              (234597009)
            • Status:
              Included
              Name:
              Complement 1s deficiency
              Code:
              (234598004)
            • Status:
              Included
              Name:
              Complement 2 deficiency
              Code:
              (234599007)
            • Status:
              Included
              Name:
              Complement 4 deficiency
              Code:
              (234600005)
            • Status:
              Included
              Name:
              Complement 4A deficiency
              Code:
              (234601009)
            • Status:
              Included
              Name:
              Complement 4B deficiency
              Code:
              (234602002)
            • Status:
              Excluded
              Name:
              Complement component 3 deficiency
              Code:
              (771443008)
          • Status:
            Included
            Name:
            Complement receptor deficiency
            Code:
            (234628004)
            • Status:
              Included
              Name:
              Complement receptor 1 deficiency
              Code:
              (234629007)
            • Status:
              Included
              Name:
              Complement receptor 3 deficiency
              Code:
              (234630002)
          • Status:
            Included
            Name:
            Complement regulatory factor defect
            Code:
            (234618008)
            • Status:
              Included
              Name:
              Anaphylotoxin inactivator deficiency
              Code:
              (234627009)
            • Status:
              Included
              Name:
              Complement 4 binding protein deficiency
              Code:
              (234623008)
            • Status:
              Included
              Name:
              Complement 5a inhibitor deficiency
              Code:
              (234626000)
            • Status:
              Included
              Name:
              Decay accelerating factor deficiency
              Code:
              (234624002)
            • Status:
              Included
              Name:
              Factor H deficiency
              Code:
              (234622003)
            • Status:
              Included
              Name:
              Factor I deficiency
              Code:
              (234621005)
              • Status:
                Excluded
                Name:
                Immunodeficiency with factor I anomaly
                Code:
                (783621008)
            • Status:
              Included
              Name:
              Familial C3B inhibitor deficiency syndrome
              Code:
              (39674000)
            • Status:
              Included
              Name:
              Hereditary C1 esterase inhibitor deficiency - deficient factor
              Code:
              (234619000)
            • Status:
              Included
              Name:
              Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
              Code:
              (234620006)
            • Status:
              Included
              Name:
              Homologous restriction factor deficiency
              Code:
              (234625001)
            • Status:
              Excluded
              Name:
              Primary CD59 deficiency
              Code:
              (778027003)
            • Status:
              Excluded
              Name:
              Recurrent Neisseria infection due to factor D deficiency
              Code:
              (783007005)
          • Status:
            Excluded
            Name:
            Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency
            Code:
            (771078002)
          • Status:
            Included
            Name:
            Terminal component deficiency
            Code:
            (234608003)
            • Status:
              Included
              Name:
              Combined complement 6 and 7 deficiencies
              Code:
              (234613004)
            • Status:
              Included
              Name:
              Complement 5 deficiency
              Code:
              (234609006)
            • Status:
              Included
              Name:
              Complement 5 dysfunction
              Code:
              (263661007)
            • Status:
              Included
              Name:
              Complement 6 deficiency
              Code:
              (234611002)
            • Status:
              Included
              Name:
              Complement 7 deficiency
              Code:
              (234612009)
            • Status:
              Included
              Name:
              Complement 8 alpha-gamma deficiency
              Code:
              (234616007)
            • Status:
              Included
              Name:
              Complement 8 beta chain deficiency
              Code:
              (234614005)
            • Status:
              Included
              Name:
              Complement 8 beta chain dysfunction
              Code:
              (234615006)
            • Status:
              Included
              Name:
              Complement 9 deficiency
              Code:
              (234617003)
      • Status:
        Excluded
        Name:
        Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome
        Code:
        (771333006)
      • Status:
        Included
        Name:
        Immunodeficiency associated with chromosomal abnormality
        Code:
        (234632005)
        • Status:
          Included
          Name:
          18-p syndrome with associated immunodeficiency
          Code:
          (234640004)
        • Status:
          Included
          Name:
          Anhidrotic ectodermal dysplasia with immune deficiency
          Code:
          (703525006)
        • Status:
          Included
          Name:
          Ataxia-telangiectasia syndrome
          Code:
          (68504005)
        • Status:
          Included
          Name:
          Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
          Code:
          (722288007)
        • Status:
          Included
          Name:
          Autoimmune lymphoproliferative syndrome with recurrent viral infection
          Code:
          (722290008)
        • Status:
          Included
          Name:
          Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency
          Code:
          (725150008)
        • Status:
          Included
          Name:
          Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency
          Code:
          (725151007)
        • Status:
          Included
          Name:
          Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency
          Code:
          (725431001)
        • Status:
          Included
          Name:
          Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency
          Code:
          (725432008)
        • Status:
          Included
          Name:
          Bloom syndrome
          Code:
          (4434006)
        • Status:
          Included
          Name:
          Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
          Code:
          (234633000)
        • Status:
          Included
          Name:
          Chromosome 18 syndromes and antibody deficiency
          Code:
          (234634006)
        • Status:
          Included
          Name:
          Chromosome 22 abnormalities with hypogammaglobulinemia
          Code:
          (234635007)
          • Status:
            Included
            Name:
            Monosomy 22 and absence of immunoglobulin A
            Code:
            (234636008)
        • Status:
          Included
          Name:
          Combined immunodeficiency due to OX40 deficiency
          Code:
          (766879006)
        • Status:
          Included
          Name:
          Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
          Code:
          (765327005)
        • Status:
          Included
          Name:
          Constitutional mismatch repair deficiency syndrome
          Code:
          (764946008)
        • Status:
          Included
          Name:
          Deletion of X-chromosome and hypogammaglobulinemia
          Code:
          (234637004)
        • Status:
          Included
          Name:
          Idiopathic CD4 lymphocytopenia
          Code:
          (763713000)
        • Status:
          Included
          Name:
          Immunodeficiency due to ficolin 3 deficiency
          Code:
          (766705006)
        • Status:
          Included
          Name:
          Immunodeficiency due to mutation of FAS-associated protein with death domain gene
          Code:
          (723334006)
        • Status:
          Included
          Name:
          Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency
          Code:
          (718230004)
        • Status:
          Included
          Name:
          Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency
          Code:
          (721876004)
        • Status:
          Included
          Name:
          Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency
          Code:
          (723384004)
        • Status:
          Included
          Name:
          Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency
          Code:
          (716869006)
        • Status:
          Included
          Name:
          Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency
          Code:
          (721877008)
        • Status:
          Included
          Name:
          Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency
          Code:
          (723385003)
        • Status:
          Included
          Name:
          Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency
          Code:
          (723386002)
        • Status:
          Included
          Name:
          Microcephaly, normal intelligence and immunodeficiency
          Code:
          (234638009)
        • Status:
          Included
          Name:
          Neutrophil immunodeficiency syndrome
          Code:
          (723443003)
        • Status:
          Included
          Name:
          Primary immunodeficiency syndrome due to p14 deficiency
          Code:
          (718717004)
        • Status:
          Included
          Name:
          Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
          Code:
          (724275005)
        • Status:
          Included
          Name:
          Pyogenic arthritis, pyoderma gangrenosum, acne syndrome
          Code:
          (724015007)
        • Status:
          Included
          Name:
          Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88
          Code:
          (718232007)
        • Status:
          Included
          Name:
          RAS-associated autoimmune leukoproliferative disease
          Code:
          (723508002)
        • Status:
          Included
          Name:
          Susceptibility to respiratory infection associated with CD8alpha chain mutation
          Code:
          (766983005)
        • Status:
          Included
          Name:
          Triple X syndrome, epilepsy, and hypogammaglobulinemia
          Code:
          (234639001)
        • Status:
          Included
          Name:
          X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
          Code:
          (724276006)
        • Status:
          Included
          Name:
          X-linked immunoneurologic disorder
          Code:
          (719827008)
        • Status:
          Included
          Name:
          X-linked mendelian susceptibility to mycobacterial disease
          Code:
          (719814009)
      • Status:
        Excluded
        Name:
        Immunodeficiency due to CD25 deficiency
        Code:
        (778028008)
      • Status:
        Included
        Name:
        Immunodeficiency with major anomalies
        Code:
        (234631003)
        • Status:
          Included
          Name:
          Immunodeficiency associated with multiple organ system abnormalities
          Code:
          (234641000)
          • Status:
            Included
            Name:
            Hypopigmentation-immunodeficiency disease
            Code:
            (37548006)
          • Status:
            Included
            Name:
            Immunoglobulinemia with isolated somatotropin deficiency
            Code:
            (7990002)
          • Status:
            Included
            Name:
            Wiskott-Aldrich syndrome
            Code:
            (36070007)
            • Status:
              Included
              Name:
              Wiskott-Aldrich autosomal dominant variant syndrome
              Code:
              (403837005)
      • Status:
        Included
        Name:
        Immunoglobulin deficiency
        Code:
        (417167007)
        • Status:
          Included
          Name:
          Immunoglobulin subclass deficiency
          Code:
          (234544003)
          • Status:
            Included
            Name:
            Immunoglobulin A deficiency
            Code:
            (29260007)
            • Status:
              Excluded
              Name:
              Deficiency of immunoglobulin A with immunoglobulin G subclass deficiency
              Code:
              (840472009)
          • Status:
            Included
            Name:
            Immunoglobulin A1 deficiency
            Code:
            (234551007)
          • Status:
            Included
            Name:
            Immunoglobulin A2 deficiency
            Code:
            (234552000)
          • Status:
            Included
            Name:
            Immunoglobulin G deficiency
            Code:
            (12631000119106)
            • Status:
              Included
              Name:
              Combined immunoglobulin G2 and G4 deficiency
              Code:
              (234547005)
            • Status:
              Excluded
              Name:
              Immunoglobulin G deficiency due to monoclonal gammopathy of undetermined significance
              Code:
              (16894671000119102)
            • Status:
              Excluded
              Name:
              Immunoglobulin G deficiency due to multiple myeloma
              Code:
              (16894711000119103)
            • Status:
              Included
              Name:
              Immunoglobulin G1 deficiency
              Code:
              (234550008)
            • Status:
              Included
              Name:
              Immunoglobulin G2 deficiency
              Code:
              (234546001)
            • Status:
              Included
              Name:
              Immunoglobulin G3 deficiency
              Code:
              (234548000)
            • Status:
              Included
              Name:
              Immunoglobulin G4 deficiency
              Code:
              (234549008)
      • Status:
        Included
        Name:
        Immunoglobulin heavy chain deficiency
        Code:
        (234539005)
        • Status:
          Included
          Name:
          Selective immunoglobulin A deficiency
          Code:
          (190979003)
        • Status:
          Included
          Name:
          Selective immunoglobulin D deficiency
          Code:
          (234541006)
        • Status:
          Included
          Name:
          Selective immunoglobulin E deficiency
          Code:
          (234540007)
        • Status:
          Included
          Name:
          Selective immunoglobulin G deficiency
          Code:
          (190981001)
        • Status:
          Included
          Name:
          Selective immunoglobulin M and immunoglobulin A deficiency
          Code:
          (234542004)
        • Status:
          Included
          Name:
          Selective immunoglobulin M deficiency
          Code:
          (190980000)
      • Status:
        Included
        Name:
        Immunoglobulin light chain deficiency
        Code:
        (234543009)
        • Status:
          Included
          Name:
          Kappa light chain deficiency
          Code:
          (449187006)
        • Status:
          Included
          Name:
          Lambda light chain deficiency
          Code:
          (449384005)
      • Status:
        Included
        Name:
        Immunoglobulin-associated molecule deficiency
        Code:
        (234553005)
        • Status:
          Included
          Name:
          Defective immunoglobulin glycosylation
          Code:
          (234555003)
        • Status:
          Included
          Name:
          Secretory piece deficiency
          Code:
          (234554004)
      • Status:
        Included
        Name:
        Interleukin-12 deficiency
        Code:
        (449853003)
      • Status:
        Included
        Name:
        Mannose-binding lectin deficiency
        Code:
        (703538003)
      • Status:
        Included
        Name:
        Melanoma differentiation-associated gene 5 deficiency
        Code:
        (768560008)
      • Status:
        Included
        Name:
        Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
        Code:
        (721903007)
      • Status:
        Excluded
        Name:
        Neonatal inflammatory skin and bowel disease
        Code:
        (773662009)
      • Status:
        Included
        Name:
        Phagocytic cell defect
        Code:
        (234573000)
        • Status:
          Included
          Name:
          Disorder of phagocytic cell number
          Code:
          (234574006)
          • Status:
            Included
            Name:
            Quantitative abnormality of granulocytes
            Code:
            (105602005)
            • Status:
              Included
              Name:
              Agranulocytosis
              Code:
              (17182001)
              • Status:
                Included
                Name:
                Agranulocytosis associated with acquired immunodeficiency syndrome
                Code:
                (421312009)
              • Status:
                Included
                Name:
                Agranulocytosis co-occurrent with human immunodeficiency virus infection
                Code:
                (713530002)
            • Status:
              Included
              Name:
              Granulocytopenic disorder
              Code:
              (417672002)
              • Status:
                Included
                Name:
                Benign granulocytopenia in childhood
                Code:
                (129640007)
              • Status:
                Included
                Name:
                Chronic benign granulocytopenia
                Code:
                (234418001)
              • Status:
                Included
                Name:
                Febrile granulocytopenia
                Code:
                (426800001)
            • Status:
              Included
              Name:
              Quantitative disorder of neutrophils
              Code:
              (105601003)
              • Status:
                Included
                Name:
                Neutropenic disorder
                Code:
                (303011007)
                • Status:
                  Excluded
                  Name:
                  Acquired neutropenia in newborn
                  Code:
                  (191345000)
                  • Status:
                    Excluded
                    Name:
                    Transient neonatal neutropenia due to congenital viral infection
                    Code:
                    (722925004)
                  • Status:
                    Excluded
                    Name:
                    Transient neonatal neutropenia due to neonatal bacterial sepsis
                    Code:
                    (722926003)
                • Status:
                  Included
                  Name:
                  Autoimmune neutropenia
                  Code:
                  (234425008)
                • Status:
                  Included
                  Name:
                  Chronic benign neutropenia
                  Code:
                  (234423001)
                • Status:
                  Included
                  Name:
                  Chronic benign neutropenia of childhood
                  Code:
                  (129641006)
                • Status:
                  Included
                  Name:
                  Chronic familial neutropenia
                  Code:
                  (234576008)
                • Status:
                  Included
                  Name:
                  Chronic hypoplastic neutropenia
                  Code:
                  (129643009)
                • Status:
                  Included
                  Name:
                  Chronic idiopathic immunoneutropenia in adults
                  Code:
                  (129642004)
                • Status:
                  Included
                  Name:
                  Chronic idiopathic neutropenia
                  Code:
                  (248693006)
                  • Status:
                    Excluded
                    Name:
                    Adult chronic idiopathic neutropenia
                    Code:
                    (784392009)
                • Status:
                  Included
                  Name:
                  Congenital neutropenia
                  Code:
                  (89655007)
                  • Status:
                    Excluded
                    Name:
                    Autosomal dominant severe congenital neutropenia
                    Code:
                    (770947009)
                  • Status:
                    Excluded
                    Name:
                    Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency
                    Code:
                    (783200000)
                  • Status:
                    Excluded
                    Name:
                    Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
                    Code:
                    (783201001)
                  • Status:
                    Excluded
                    Name:
                    Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
                    Code:
                    (783058007)
                  • Status:
                    Excluded
                    Name:
                    Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency
                    Code:
                    (783199003)
                  • Status:
                    Excluded
                    Name:
                    Congenital neutropenia, myelofibrosis, nephromegaly syndrome
                    Code:
                    (775909002)
                  • Status:
                    Excluded
                    Name:
                    Kostmann syndrome
                    Code:
                    (770942003)
                  • Status:
                    Included
                    Name:
                    Neutropenia, monocytopenia, deafness syndrome
                    Code:
                    (725137007)
                  • Status:
                    Excluded
                    Name:
                    Onycho-tricho-dysplasia neutropenia syndrome
                    Code:
                    (1003381002)
                  • Status:
                    Included
                    Name:
                    Periodontitis co-occurrent with infantile genetic agranulocytosis
                    Code:
                    (709535007)
                  • Status:
                    Included
                    Name:
                    Reticular dysgenesis
                    Code:
                    (111584000)
                    • Status:
                      Included
                      Name:
                      De Vaal's syndrome
                      Code:
                      (350353007)
                    • Status:
                      Included
                      Name:
                      Reticular dysgenesis with congenital aleukocytosis
                      Code:
                      (351287008)
                  • Status:
                    Included
                    Name:
                    Severe combined immunodeficiency with reticular dysgenesis
                    Code:
                    (190996002)
                  • Status:
                    Included
                    Name:
                    Shwachman syndrome
                    Code:
                    (89454001)
                  • Status:
                    Excluded
                    Name:
                    X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
                    Code:
                    (782759001)
                  • Status:
                    Included
                    Name:
                    X-linked severe congenital neutropenia
                    Code:
                    (718882006)
                • Status:
                  Included
                  Name:
                  Cyclical neutropenia
                  Code:
                  (191347008)
                  • Status:
                    Included
                    Name:
                    Periodontitis co-occurrent with cyclical neutropenia
                    Code:
                    (710927004)
                • Status:
                  Included
                  Name:
                  Drug-induced neutropenia
                  Code:
                  (47318007)
                  • Status:
                    Included
                    Name:
                    Chloramphenicol-induced neutropenia
                    Code:
                    (276628009)
                  • Status:
                    Included
                    Name:
                    Dose-related drug-induced neutropenia
                    Code:
                    (56918001)
                  • Status:
                    Included
                    Name:
                    Non dose-related drug-induced neutropenia
                    Code:
                    (3902000)
                • Status:
                  Included
                  Name:
                  Familial neutropenia
                  Code:
                  (247860002)
                  • Status:
                    Included
                    Name:
                    Periodontitis co-occurrent with familial neutropenia
                    Code:
                    (710926008)
                • Status:
                  Included
                  Name:
                  Febrile neutropenia
                  Code:
                  (409089005)
                • Status:
                  Included
                  Name:
                  Immune neutropenia
                  Code:
                  (65623009)
                  • Status:
                    Included
                    Name:
                    Alloimmune neonatal neutropenia
                    Code:
                    (14333004)
                  • Status:
                    Included
                    Name:
                    Neutropenia associated with autoimmune disease
                    Code:
                    (111585004)
                • Status:
                  Included
                  Name:
                  Isoimmune neutropenia
                  Code:
                  (78378009)
                • Status:
                  Included
                  Name:
                  Metabolic neutropenia
                  Code:
                  (234424007)
                • Status:
                  Included
                  Name:
                  Myelokathexis
                  Code:
                  (24974008)
                • Status:
                  Included
                  Name:
                  Neutropenia associated with infectious disease
                  Code:
                  (46359005)
                  • Status:
                    Included
                    Name:
                    Neutropenia associated with acquired immunodeficiency syndrome
                    Code:
                    (416729007)
                • Status:
                  Included
                  Name:
                  Neutropenia caused by irradiation
                  Code:
                  (267540007)
                • Status:
                  Included
                  Name:
                  Neutropenia due to and following chemotherapy
                  Code:
                  (767658000)
                • Status:
                  Included
                  Name:
                  Neutropenia with dysgranulopoiesis
                  Code:
                  (41814009)
                • Status:
                  Included
                  Name:
                  Periodontitis co-occurrent with acquired neutropenia
                  Code:
                  (709608008)
                • Status:
                  Excluded
                  Name:
                  Poikiloderma with neutropenia
                  Code:
                  (772126000)
                • Status:
                  Included
                  Name:
                  Primary splenic neutropenia
                  Code:
                  (191338000)
                • Status:
                  Included
                  Name:
                  Toxic neutropenia
                  Code:
                  (32092008)
                • Status:
                  Included
                  Name:
                  Transient neonatal neutropenia
                  Code:
                  (55444004)
                  • Status:
                    Included
                    Name:
                    Maternal transfer neutropenia
                    Code:
                    (80255009)
                  • Status:
                    Included
                    Name:
                    Neutropenia of the small for gestational age baby
                    Code:
                    (276576000)
                  • Status:
                    Excluded
                    Name:
                    Transient neonatal neutropenia due to congenital viral infection
                    Code:
                    (722925004)
                  • Status:
                    Excluded
                    Name:
                    Transient neonatal neutropenia due to neonatal bacterial sepsis
                    Code:
                    (722926003)
                • Status:
                  Included
                  Name:
                  X-linked hypogammaglobulinemia
                  Code:
                  (234416002)
                  • Status:
                    Included
                    Name:
                    X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome
                    Code:
                    (719156006)
              • Status:
                Included
                Name:
                Neutrophilia
                Code:
                (414850009)
                • Status:
                  Included
                  Name:
                  Acquired neutrophilia
                  Code:
                  (735434003)
                • Status:
                  Included
                  Name:
                  Acute neutrophilia
                  Code:
                  (47144000)
                • Status:
                  Included
                  Name:
                  Chronic neutrophilia
                  Code:
                  (80369006)
                • Status:
                  Included
                  Name:
                  Constitutional neutrophilia
                  Code:
                  (735435002)
                • Status:
                  Included
                  Name:
                  Drug-induced neutrophilia
                  Code:
                  (63484008)
                  • Status:
                    Included
                    Name:
                    Corticosteroid-induced neutrophilia
                    Code:
                    (234426009)
                • Status:
                  Included
                  Name:
                  Hereditary neutrophilia
                  Code:
                  (129639005)
                • Status:
                  Included
                  Name:
                  Neutrophilic leukemoid reaction
                  Code:
                  (71610005)
                • Status:
                  Included
                  Name:
                  Stress neutrophilia
                  Code:
                  (127067009)
              • Status:
                Included
                Name:
                Pseudoneutrophilia
                Code:
                (70349007)
        • Status:
          Included
          Name:
          Functional disorders of polymorphonuclear neutrophils
          Code:
          (267543009)
        • Status:
          Included
          Name:
          Phagocytic cell dysfunction
          Code:
          (302874002)
          • Status:
            Included
            Name:
            Combined phagocytic defect
            Code:
            (234591005)
            • Status:
              Included
              Name:
              Chédiak-Higashi syndrome
              Code:
              (111396008)
              • Status:
                Included
                Name:
                Attenuated Chédiak-Higashi syndrome
                Code:
                (720520009)
              • Status:
                Included
                Name:
                Periodontitis co-occurrent with Chédiak-Higashi syndrome
                Code:
                (709465004)
            • Status:
              Included
              Name:
              Hemolytic erythrophagocytic syndrome
              Code:
              (234436001)
              • Status:
                Included
                Name:
                Hemophagocytic lymphohistiocytosis
                Code:
                (234437005)
                • Status:
                  Excluded
                  Name:
                  Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
                  Code:
                  (782915004)
                • Status:
                  Included
                  Name:
                  Familial hemophagocytic lymphohistiocytosis
                  Code:
                  (398250003)
                • Status:
                  Excluded
                  Name:
                  Hemophagocytic lymphohistiocytosis due to infection
                  Code:
                  (190959006)
                • Status:
                  Excluded
                  Name:
                  Hemophagocytic syndrome co-occurrent with human immunodeficiency virus infection
                  Code:
                  (713444005)
                • Status:
                  Excluded
                  Name:
                  Macrophage activation syndrome
                  Code:
                  (430478003)
            • Status:
              Excluded
              Name:
              Monocytopenia with susceptibility to infections
              Code:
              (778024005)
          • Status:
            Included
            Name:
            Defective phagocytic cell adhesion
            Code:
            (234581004)
            • Status:
              Included
              Name:
              Congenital leukocyte adherence deficiency
              Code:
              (77358003)
              • Status:
                Included
                Name:
                Leukocyte adhesion deficiency - type 1
                Code:
                (234582006)
              • Status:
                Included
                Name:
                Leukocyte adhesion deficiency - type 2
                Code:
                (234583001)
              • Status:
                Included
                Name:
                Periodontitis co-occurrent with leukocyte adhesion deficiency
                Code:
                (710735009)
          • Status:
            Included
            Name:
            Defective phagocytic cell chemotaxis
            Code:
            (234580003)
            • Status:
              Included
              Name:
              Lazy leukocyte syndrome
              Code:
              (71436005)
          • Status:
            Included
            Name:
            Defective phagocytic cell killing
            Code:
            (234585008)
            • Status:
              Included
              Name:
              Chronic granulomatous disease
              Code:
              (387759001)
              • Status:
                Included
                Name:
                Chronic granulomatous disease, type I
                Code:
                (29272001)
              • Status:
                Included
                Name:
                Chronic granulomatous disease, type IA
                Code:
                (40197009)
              • Status:
                Included
                Name:
                Chronic granulomatous disease, type II
                Code:
                (77330006)
              • Status:
                Included
                Name:
                Chronic granulomatous disease, type IIA
                Code:
                (26252007)
              • Status:
                Included
                Name:
                Chronic granulomatous disease, type III
                Code:
                (82317007)
              • Status:
                Included
                Name:
                Chronic granulomatous disease, type IV
                Code:
                (21527007)
              • Status:
                Included
                Name:
                Chronic granulomatous disease, type IVA
                Code:
                (76243000)
            • Status:
              Included
              Name:
              Glutathione synthetase deficiency
              Code:
              (234589002)
            • Status:
              Included
              Name:
              Gluthathione peroxidase deficiency
              Code:
              (234590006)
            • Status:
              Included
              Name:
              Leukocyte glucose-6-phosphate dehydrogenase deficiency
              Code:
              (234586009)
            • Status:
              Included
              Name:
              Myeloperoxidase deficiency
              Code:
              (234433009)
            • Status:
              Included
              Name:
              Neutrophil lactoferrin deficiency
              Code:
              (234587000)
            • Status:
              Included
              Name:
              Neutrophil secondary granule deficiency
              Code:
              (234588005)
          • Status:
            Included
            Name:
            Defective phagocytic cell opsonization
            Code:
            (234578009)
            • Status:
              Included
              Name:
              Mannan-binding protein deficiency
              Code:
              (234579001)
          • Status:
            Included
            Name:
            Lichtenstein syndrome
            Code:
            (763668009)
          • Status:
            Included
            Name:
            Lipochrome histiocytosis - familial
            Code:
            (234577004)
      • Status:
        Excluded
        Name:
        Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
        Code:
        (773646003)
      • Status:
        Excluded
        Name:
        Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
        Code:
        (783245001)
      • Status:
        Included
        Name:
        Primary immunoglobulin catabolism abnormality
        Code:
        (234564008)
        • Status:
          Included
          Name:
          Familial immunoglobulin hypercatabolism
          Code:
          (234566005)
        • Status:
          Included
          Name:
          Immunoglobulin hypercatabolism
          Code:
          (234565009)
      • Status:
        Included
        Name:
        Specific antibody deficiency
        Code:
        (234556002)
        • Status:
          Excluded
          Name:
          Alopecia antibody deficiency
          Code:
          (783205005)
        • Status:
          Included
          Name:
          Anti-polysaccharide antibody deficiency
          Code:
          (234557006)
          • Status:
            Included
            Name:
            Anti-haemophilus influenzae B polysaccharide antibody deficiency
            Code:
            (234558001)
          • Status:
            Included
            Name:
            Anti-meningococcal polysaccharide A antibody deficiency
            Code:
            (234560004)
          • Status:
            Included
            Name:
            Anti-meningococcal polysaccharide C antibody deficiency
            Code:
            (234561000)
          • Status:
            Included
            Name:
            Anti-pneumococcal polysaccharide antibody deficiency
            Code:
            (234559009)
        • Status:
          Included
          Name:
          Anti-protein antibody deficiency
          Code:
          (234562007)
        • Status:
          Included
          Name:
          Anti-staphylococcal antibody deficiency
          Code:
          (234563002)
        • Status:
          Excluded
          Name:
          Osteopetrosis hypogammaglobulinemia syndrome
          Code:
          (773730002)
      • Status:
        Excluded
        Name:
        Sterile multifocal osteomyelitis with periostitis and pustulosis
        Code:
        (773702002)
      • Status:
        Excluded
        Name:
        Susceptibility to viral and mycobacterial infection
        Code:
        (778045003)
      • Status:
        Excluded
        Name:
        Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency
        Code:
        (778023004)
      • Status:
        Excluded
        Name:
        T-cell immunodeficiency due to ras homolog family member H deficiency
        Code:
        (770785002)
      • Status:
        Included
        Name:
        Tuftsin deficiency
        Code:
        (234584007)
      • Status:
        Excluded
        Name:
        Vasculitis due to adenosine deaminase 2 deficiency
        Code:
        (770687001)
      • Status:
        Included
        Name:
        X-linked lymphoproliferative syndrome
        Code:
        (77121009)
    • Status:
      Included
      Name:
      Secondary immune deficiency disorder
      Code:
      (33286000)
      • Status:
        Included
        Name:
        Acquired immune deficiency syndrome
        Code:
        (62479008)
        • Status:
          Included
          Name:
          Acquired immune deficiency syndrome complicating childbirth
          Code:
          (10746341000119109)
      • Status:
        Included
        Name:
        Age-related immunodeficiency
        Code:
        (234642007)
        • Status:
          Included
          Name:
          Transient immunodeficiency of infancy
          Code:
          (234643002)
      • Status:
        Included
        Name:
        Drug-induced immunodeficiency
        Code:
        (234645009)
        • Status:
          Included
          Name:
          Immunodeficiency caused by corticosteroid
          Code:
          (103079001)
        • Status:
          Included
          Name:
          Immunodeficiency caused by long term therapeutic use of drug
          Code:
          (10838971000119103)
        • Status:
          Excluded
          Name:
          Lymphoproliferative disorder caused by methotrexate
          Code:
          (771073006)
      • Status:
        Excluded
        Name:
        Iatrogenic immunodeficiency-associated lymphoproliferative disorder
        Code:
        (783150002)
      • Status:
        Included
        Name:
        Immunodeficiency following hereditary defective response to Epstein-Barr virus
        Code:
        (191008001)
      • Status:
        Included
        Name:
        Immunodeficiency secondary to chemotherapy
        Code:
        (103081004)
      • Status:
        Included
        Name:
        Immunodeficiency secondary to neoplasm
        Code:
        (103077004)
      • Status:
        Included
        Name:
        Immunodeficiency secondary to radiation therapy
        Code:
        (103080003)
      • Status:
        Included
        Name:
        Immunodeficiency secondary to trauma
        Code:
        (103078009)
    • Status:
      Included
      Name:
      T-lymphocyte immunodeficiency
      Code:
      (402792003)
    • Status:
      Included
      Name:
      Transient hypogammaglobulinemia of infancy
      Code:
      (88714009)
  • Status:
    Included
    Name:
    Lambda light chain disease
    Code:
    (66876008)
  • Status:
    Included
    Name:
    May-Hegglin anomaly
    Code:
    (234484005)
  • Status:
    Included
    Name:
    Pancytopenia with pancreatitis
    Code:
    (234367000)
  • Status:
    Included
    Name:
    Specific granule deficiency
    Code:
    (234431006)

Finding

  • Status:
    Included
    Name:
    Agammaglobulinemia
    Code:
    (119249001)
    • Status:
      Included
      Name:
      Congenital hypogammaglobulinemia
      Code:
      (267460002)
  • Status:
    Included
    Name:
    Cellular immune defect
    Code:
    (398293003)
    • Status:
      Included
      Name:
      Predominantly T-cell defect
      Code:
      (398271008)
    • Status:
      Included
      Name:
      T-lymphocyte deficiency
      Code:
      (398055000)
      • Status:
        Included
        Name:
        CD4 T lymphocyte deficiency
        Code:
        (406565005)
        • Status:
          Included
          Name:
          Idiopathic CD4 lymphocytopenia
          Code:
          (763713000)
  • Status:
    Included
    Name:
    Deficiencies of humoral immunity
    Code:
    (267459007)
  • Status:
    Included
    Name:
    Selective immunoglobulin dysfunction
    Code:
    (234535004)
    • Status:
      Included
      Name:
      Hyperimmunoglobulin D with periodic fever
      Code:
      (234538002)

[Inactive] Disorder

  • Status:
    Included
    Name:
    22q11 microdeletion with complete DiGeorge sequence
    Code:
    (460436001)
  • Status:
    Included
    Name:
    AIDS with agranulocytosis
    Code:
    (906000)
  • Status:
    Included
    Name:
    Acquired immunodeficiency syndrome-like syndrome
    Code:
    (62246005)
  • Status:
    Included
    Name:
    Acquired neutropenia NEC
    Code:
    (666921000000103)
  • Status:
    Included
    Name:
    Agranulocytic angina
    Code:
    (72050006)
  • Status:
    Included
    Name:
    Agranulocytopenic disorder
    Code:
    (267538002)
  • Status:
    Included
    Name:
    Agranulocytosis NOS
    Code:
    (626051000000103)
  • Status:
    Included
    Name:
    Chemotherapy-induced neutropenia
    Code:
    (425229001)
  • Status:
    Included
    Name:
    Combined immunity deficiency NOS
    Code:
    (646621000000103)
  • Status:
    Included
    Name:
    Combined immunodeficiency disease in Arab foals
    Code:
    (69624006)
  • Status:
    Included
    Name:
    Complement 3 deficiency
    Code:
    (234603007)
  • Status:
    Included
    Name:
    Congenital agranulocytosis NEC
    Code:
    (656561000000105)
  • Status:
    Included
    Name:
    Congenital dysphagocytosis
    Code:
    (191352003)
  • Status:
    Included
    Name:
    Cyclic neutropenia
    Code:
    (69295006)
  • Status:
    Included
    Name:
    Cyclic neutropenia in Gray Collie dogs
    Code:
    (13263004)
  • Status:
    Included
    Name:
    DiGeorge sequence
    Code:
    (77128003)
  • Status:
    Included
    Name:
    Granulocytopenia
    Code:
    (310589001)
  • Status:
    Included
    Name:
    Hyperimmunoglobulin E syndrome
    Code:
    (41541007)
  • Status:
    Included
    Name:
    Immune reconstitution syndrome
    Code:
    (814211000000101)
  • Status:
    Included
    Name:
    Lambda chain disease
    Code:
    (236510007)
  • Status:
    Included
    Name:
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome
    Code:
    (25109007)
  • Status:
    Included
    Name:
    Other specified agranulocytosis
    Code:
    (571321000000109)
  • Status:
    Included
    Name:
    Polymorphonuclear neutrophil disorder NOS
    Code:
    (660661000000101)
  • Status:
    Included
    Name:
    Primary hemophagocytic lymphohistiocytosis
    Code:
    (724641002)
  • Status:
    Included
    Name:
    Schultz disease
    Code:
    (192783000)
  • Status:
    Included
    Name:
    Shprintzen syndrome
    Code:
    (83092002)
  • Status:
    Included
    Name:
    Transient neonatal neutropenia NOS
    Code:
    (599441000000104)
  • Status:
    Included
    Name:
    Unspecified immunity deficiency
    Code:
    (638281000000100)
  • Status:
    Included
    Name:
    X-linked severe combined immunodeficiency
    Code:
    (203592006)
  • Status:
    Included
    Name:
    [X]Immunodeficiency associated with major defect, unspecified
    Code:
    (467901000000107)
  • Status:
    Included
    Name:
    [X]Immunodeficiency associated with major defect, unspecified
    Code:
    (191030000)
  • Status:
    Included
    Name:
    [X]Immunodeficiency associated with major defect, unspecified
    Code:
    (411421000000102)

[Inactive] Finding

  • Status:
    Included
    Name:
    Agammaglobulinemia NEC
    Code:
    (190984009)
  • Status:
    Included
    Name:
    Agammaglobulinemia NEC
    Code:
    (623081000000100)
  • Status:
    Included
    Name:
    Autosomal recessive hyperimmunoglobulin M syndrome
    Code:
    (234537007)
  • Status:
    Included
    Name:
    Deficiency of cell-mediated immunity NOS
    Code:
    (609361000000103)
  • Status:
    Included
    Name:
    Hypogammaglobulinemia NOS
    Code:
    (623061000000109)
  • Status:
    Included
    Name:
    Other selective immunoglobulin deficiency
    Code:
    (623071000000102)
  • Status:
    Included
    Name:
    Predominantly T-cell immuno-deficiency NOS
    Code:
    (693341000000104)
  • Status:
    Included
    Name:
    X-linked hyperimmunoglobulin M syndrome
    Code:
    (234536003)

[Inactive] Procedure

  • Status:
    Included
    Name:
    Transplant immunosuppression
    Code:
    (183023001)

[Inactive] Unknown

  • Status:
    Included
    Name:
    Hereditary C1 esterase inhibitor deficiency - deficient factor
    Code:
    (757291000000109)
  • Status:
    Included
    Name:
    Immune reconstitution syndrome
    Code:
    (832841000000103)
  • Status:
    Included
    Name:
    Immunoglobulin G4 deficiency
    Code:
    (1050951000000106)
  • Status:
    Included
    Name:
    Mannan-binding protein deficiency
    Code:
    (938231000000103)
  • Status:
    Included
    Name:
    Schwachman's syndrome
    Code:
    (192801000000104)