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442459007: Combined immunodeficiency disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2819524017 Combined immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2819525016 Combined immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2819524017 Combined immunodeficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2819524017 Combined immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2819525016 Combined immunodeficiency disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2819525016 Combined immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5337381000241115 immunodéficience combinée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5337381000241115 immunodéficience combinée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

144 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined immunodeficiency disease Is a Primary immune deficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency disease Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Benign combined immunodeficiency Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Immuno-osseous dysplasia (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Laron syndrome with immunodeficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to OX40 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Susceptibility to respiratory infection associated with CD8alpha chain mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive lymphoproliferative disease (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to STK4 deficiency Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary primary immunodeficiency characterised by recurrent respiratory tract infection, otitis media, candidiasis, diarrhoea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune haemolytic anaemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
RIDDLE syndrome Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Pancytopenia due to IKZF1 mutations Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Hennekam lymphangiectasia-lymphoedema syndrome Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare, combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens, and fluctuating neutropenia. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome with combined immunodeficiency characterised by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due to a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to transferrin receptor deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare immune dysregulation disease with immunodeficiency characterised by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumours have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
PGM3-related congenital disorder of glycosylation Is a False Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunodeficiency with multifaceted aberrant lymphoid immunity (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Dedicator of cytokinesis 2 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. Is a False Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to FCHO1 deficiency Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. Is a False Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined immunodeficiency due to Aiolos deficiency Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to ICOS deficiency Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to inducible T-cell costimulator ligand deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulin E syndrome Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to DNA polymerase delta 2 accessory subunit mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to MCM10 deficiency Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency by defective expression of human leukocyte antigen class 1 Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinaemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhoea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood. Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to RELB proto-oncogene, NF-kB subunit mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked combined immunodeficiency due to SASH3 deficiency Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to COPI coat complex subunit gamma 1 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to CD28 mutation Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined immunodeficiency due to STAT5b mutation Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to REL mutation Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to BCL10 immune signaling adaptor mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to component of inhibitor of nuclear factor kappa B kinase complex mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to IKAROS family zinc finger 2 mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to ITPKB mutation Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to paired box 1 mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to MAN2B2 mutation Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a True Combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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