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
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
)