362993009: Autosomal recessive severe combined immunodeficiency disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)
\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)

\Fetal and/or neonatal disorder\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive severe combined immunodeficiency disease (disorder)	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Is a	Severe combined immunodeficiency disease	true	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive severe combined immunodeficiency disease (disorder)	Finding site	Body system structure	true	Inferred relationship	Some	2
Autosomal recessive severe combined immunodeficiency disease (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive severe combined immunodeficiency	Is a	False	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.	Is a	False	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
immunodéficience combinée sévère due à un déficit de recrutement par la caspase 11	Is a	False	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare severe combined immunodeficiency characterised by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, haematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder).	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 delta subunit of T-cell receptor complex mutation (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 epsilon subunit of T-cell receptor complex mutation (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2914355014	Autosomal recessive severe combined immunodeficiency disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914598012	Autosomal recessive severe combined immunodeficiency disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5065843011	Autosomal recessive SCID (severe combined immunodeficiency disease)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5642961000241115	syndrome SCID autosomique récessif	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5642971000241111	déficit immunitaire combiné sévère autosomique récessif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module