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58606001: Primary immune deficiency disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
97391015 Primary immune deficiency disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
797357013 Primary immune deficiency disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231855019 Primary immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
97391015 Primary immune deficiency disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
97391015 Primary immune deficiency disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
797357013 Primary immune deficiency disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
797357013 Primary immune deficiency disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231855019 Primary immunodeficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1231855019 Primary immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4581671000241118 syndrome immunodéficience primaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4581671000241118 syndrome immunodéficience primaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

481 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary immune deficiency disorder Is a Immunodeficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Primary immune deficiency disorder Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Primary immune deficiency disorder Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Primary immune deficiency disorder 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
Immunoglobulin heavy chain deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immunoglobulin light chain deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immunoglobulin subclass deficiency Is a False Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immunoglobulin-associated molecule deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Specific antibody deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunoglobulin catabolism abnormality (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Phagocytic cell defect Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Tuftsin deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency with major anomalies Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
De Vaal's syndrome (disorder) Is a False Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of complement Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Is a False Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency associated with chromosomal abnormality Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
déficit en immunoglobulines Is a False Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency disease Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Interleukin-12 deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mannose-binding lectin deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Activated PI3K-delta syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Melanoma differentiation-associated gene 5 deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal inflammatory skin and bowel disease Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
PLCG2-associated antibody deficiency and immune dysregulation Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic multisystem autoimmune disease due to ITCH deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency due to CD25 deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Susceptibility to viral and mycobacterial infection Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic autoinflammatory syndrome with immune deficiency disease characterised by recurrent and severe flares of generalised pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form. Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune lymphoproliferative syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lymphoproliferative syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immunoneurologic disorder Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Interleukin 21 related infantile inflammatory bowel disease (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic primary immunodeficiency characterised by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophytosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy. Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of immunoglobulin Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary immunodeficiency characterised by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur. Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Common variable agammaglobulinaemia Is a False Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Common variable immunodeficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Isolated agammaglobulinemia Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulin M syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare immunodeficiency syndrome with autoimmunity characterized by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy. Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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