Primary Immunodeficiencies – Definitions & ICD 11 Codes

Primary immunodeficiencies due to disorders of innate immunity

ICD 11 Code For Primary immunodeficiencies due to disorders of innate immunity

 4A00  Primary immunodeficiencies due to disorders of innate immunity

Coded Elsewhere:

• Constitutional neutropaenia (4B00.00)

4A00.0 Functional neutrophil defects

Inclusions:

• Congenital dysphagocytosis

Coded Elsewhere:

• Haemolytic anaemia due to glucose-6-phosphate dehydrogenase deficiency (3A10.00)
• Papillon-Lefèvre syndrome (EC20.30)

4A00.00 Neutrophil immunodeficiency syndrome

Definition of Neutrophil immunodeficiency syndrome: Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterised by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.

4A00.0Y Other specified functional neutrophil defects

4A00.0Z Functional neutrophil defects unspecified

4A00.1 Defects in the complement system

Exclusions:

• Atypical haemolytic uraemic syndrome (3A10)
• Paroxysmal nocturnal haemoglobinuria (3A21.0)

4A00.10 Immunodeficiency with an early component of complement deficiency

4A00.11 Immunodeficiency with a late component of complement deficiency

4A00.12 Immunodeficiency with factor B deficiency

4A00.13 Immunodeficiency with factor D anomaly

Definition of Immunodeficiency with factor D anomaly: Factor D deficiency is an autosomal recessive immunologic disorder characterised by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway.

4A00.14 Hereditary angioedema

Definition of Hereditary angioedema: Hereditary angioedema is caused in the majority of cases by genetically determined low absolute (type I) or functional (type II) levels of C1 inhibitor, a plasma proteinase inhibitor involved in regulation of complement activation. It is characterised clinically by recurrent subcutaneous and/or submucosal oedema and can result in life-threatening laryngeal obstruction. Involvement of the digestive tract commonly causes abdominal pain. This and the absence of accompanying urticarial weals or itch distinguish it from the common form of angioedema, which is part of the spectrum of urticaria.

4A00.15 Acquired angioedema

Definition of Acquired angioedema: Acquired angioedema is clinically similar to hereditary angioedema and is not associated with urticaria. It may be associated with a lymphoproliferative disorder (type I) or may be an isolated phenomenon due to an autoantibody directed against C1 inhibitor (type II).

4A00.1Y Other specified defects in the complement system

4A00.1Z Defects in the complement system unspecified

4A00.2 Genetic susceptibility to particular pathogens

Coded Elsewhere:

• Encephalitis due to herpes simplex virus (1F00.21)
• Chronic mucocutaneous candidosis (1F23.14)

4A00.3 Immunodeficiency with natural-killer cell deficiency

4A00.Y Other specified primary immunodeficiencies due to disorders of innate immunity

4A00.Z Primary immunodeficiencies due to disorders of innate immunity unspecified

Primary immunodeficiencies due to disorders of adaptive immunity

ICD 11 Code For Primary immunodeficiencies due to disorders of adaptive immunity

  4A01  Primary immunodeficiencies due to disorders of adaptive immunity

4A01.0 Immunodeficiencies with predominantly antibody defects

Definition of Immunodeficiencies with predominantly antibody defects: A disorder characterised by an inability to mount a normal immune response due to antibody (i.e. immunoglobulin) defects

4A01.00 Hereditary agammaglobulinaemia with profoundly reduced or absent B cells

Definition of Hereditary agammaglobulinaemia with profoundly reduced or absent B cells: This refers to a hereditary type of primary immune deficiency disease characterised by a reduction in all types of gamma globulins, and rare X-linked genetic disorder that affects the body’s ability to fight infection.

4A01.01 Immunodeficiencies with severe reduction in at least two serum immunoglobulin isotypes with normal or low numbers of B cells

Definition of Immunodeficiencies with severe reduction in at least two serum immunoglobulin isotypes with normal or low numbers of B cells: This refers to a nonfamilial type of primary immune deficiency disease characterised by a reduction in at least two serum immunoglobulin isotypes. Circulating B cells may be normal or low.

4A01.02 Specific antibody deficiency with normal immunoglobulin concentrations or normal number of B cells

4A01.03 Transient hypogammaglobulinaemia of infancy

4A01.04 Immunodeficiencies with isotype or light chain deficiencies with normal number of B cells

4A01.05 Immunodeficiencies with severe reduction in serum IgG or IgA with normal or elevated IgM and normal numbers of B-cells

Coded Elsewhere:

• Hyper-IgM syndrome due to CD40 ligand deficiency (4A01.1Y)
• Hyper-IgM syndrome due to CD40 deficiency (4A01.1Y)

4A01.0Y Other specified immunodeficiencies with predominantly antibody defects

4A01.0Z Immunodeficiencies with predominantly antibody defects unspecified

4A01.1 Combined immunodeficiencies

Exclusions:

• autosomal recessive agammaglobulinaemia (Swiss type) (4A01.00)

Coded Elsewhere:

• Laron syndrome with immunodeficiency (5A61.0)

4A01.10 Severe combined immunodeficiencies

Definition of Severe combined immunodeficiencies: Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterised by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive.

4A01.11 Major histocompatibility complex class I deficiency

4A01.12 Major histocompatibility complex class II deficiency

Definition of Major histocompatibility complex class II deficiency: Immunodeficiency by defective expression of HLA class II is an autosomal recessive primary immune deficiency, manifesting by recurrent viral and bacterial infections, often leading to chronic diarrhoea and growth retardation.

4A01.1Y Other specified combined immunodeficiencies

4A01.1Z Combined immunodeficiencies unspecified

4A01.2 Diseases of immune dysregulation

4A01.20 Immune dysregulation syndromes with hypopigmentation

Coded Elsewhere:

• Hermansky-Pudlak syndrome (EC23.20)
• Chédiak-Higashi syndrome (EC23.20)
• Griscelli syndrome type 2 (4A01.23)

4A01.21 Immune dysregulation syndromes presenting primarily with autoimmunity

Coded Elsewhere:

• Autoimmune polyendocrinopathy type 1 (5B00)
• Syndromic multisystem autoimmune disease due to ITCH deficiency (4A43.Y)
• Aicardi-Goutières syndrome (5C55.2)
• Spondylometaphyseal dysplasia with combined immunodeficiency (LD24.4)

4A01.22 Immune dysregulation syndromes presenting primarily with lymphoproliferation

4A01.23 Primary haemophagocytic lymphohistiocytosis

Definition of Primary haemophagocytic lymphohistiocytosis: A disease caused by determinants arising after birth, during the antenatal period or genetically inherited factors leading to uncontrolled proliferation of activated lymphocytes and macrophages. This disease is characterised by increased proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. This disease may present with fever, rash, jaundice, splenomegaly, lymphadenopathy, histiocytosis, haemophagocytosis, or cytopenia.

Inclusions:

• Histiocytoses of mononuclear phagocytes

Coded Elsewhere:

• Hermansky-Pudlak syndrome (EC23.20)
• Chédiak-Higashi syndrome (EC23.20)

4A01.2Y Other specified diseases of immune dysregulation

4A01.2Z Diseases of immune dysregulation unspecified

4A01.3 Other well-defined immunodeficiency syndromes due to defects in adaptive immunity

Definition of Other well-defined immunodeficiency syndromes due to defects: This refers to other defects in the highly specialized, systemic cells and processes that eliminate or prevent pathogen growth.

Coded Elsewhere:

• Wiskott-Aldrich syndrome (3B62.0Y)
• Netherton syndrome (LD27.2)
• Dyskeratosis congenita (3A70.0)

4A01.30 Immunodeficiency due to defects of the thymus

Coded Elsewhere:

• CATCH 22 phenotype (LD44.N0)

4A01.31 DNA repair defects other than combined T-cell or B-cell immunodeficiencies

4A01.32 Immuno-osseous dysplasia

Definition of Immuno-osseous dysplasia: This is an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.

Coded Elsewhere:

• Cartilage-hair hypoplasia (LD27.0Y)

4A01.33 Hepatic veno-occlusive disease – immunodeficiency

Definition of Hepatic veno-occlusive disease – immunodeficiency: Hepatic veno-occlusive disease – immunodeficiency syndrome is characterised by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centres, absent tissue plasma cells and hepatic veno-occlusive disease.

4A01.34 Hyperimmunoglobulin E syndromes

4A01.Z Primary immunodeficiencies due to disorders of adaptive immunity unspecified

Other specified primary immunodeficiencies

ICD 11 Code For Other specified primary immunodeficiencies

  4A0Y  Other specified primary immunodeficiencies

 Primary immunodeficiencies unspecified

 ICD 11 Code For Primary immunodeficiencies unspecified

  4A0Z  Primary immunodeficiencies unspecified

Acquired immunodeficiencies

 ICD 11 Code For Acquired immunodeficiencies

  4A20  Acquired immunodeficiencies

Coded Elsewhere:

• Human immunodeficiency virus disease (1C60-1C62.Z)
• Acquired neutropaenia (4B00.01)

4A20.0 Adult-onset immunodeficiency

Definition of Adult-onset immunodeficiency: Adults with disseminated mycobacterial infections and/or other AIDS-defining infections, often involving concomitant neutrophilic dermatoses. All patients have high titres of anti-interferon-gamma and normal CD4 T helper cell counts.

4A20.1 Acquired immunodeficiency due to loss of immunoglobulin

Definition of Acquired immunodeficiency due to loss of immunoglobulin: Acquired immunodeficiency due to loss of immunoglobulins (protein loss) may occur via the GI tract (protein losing enteropathy), via the kidney (nephrotic syndrome) or via the skin (in severe skin damage).

4A20.Y Other specified acquired immunodeficiencies

4A20.Z Acquired immunodeficiencies unspecified