1351572006: Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)\Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\...
• \Combined immunodeficiency disease\Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.\Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)
• \Hyperimmunoglobulin M syndrome\Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.\Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)
• \Hyperimmunoglobulin M syndrome\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)\Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5407834013	Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407835014	Autosomal recessive hyperimmunoglobulin M syndrome due to AID deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407836010	Autosomal recessive hyper-IgM syndrome type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407837018	Autosomal recessive activation-induced cytidine deaminase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5407838011	Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407839015	Autosomal recessive hyper IgM syndrome due to AICDA	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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