1362020006: Hyperimmunoglobulin M syndrome type 3 (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)\Hyperimmunoglobulin M syndrome type 3
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\...
• \Combined immunodeficiency disease\Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.\Hyperimmunoglobulin M syndrome type 3
• \Hyperimmunoglobulin M syndrome\Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.\Hyperimmunoglobulin M syndrome type 3
• \Hyperimmunoglobulin M syndrome\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)\Hyperimmunoglobulin M syndrome type 3

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5443852012	Hyperimmunoglobulin M syndrome type 3	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5443853019	HIGM3 - hyperimmunoglobulin M syndrome type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5443854013	Hyper-IgM syndrome due to CD40 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5443855014	Hyperimmunoglobulin M syndrome type 3 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5443856010	Autosomal recessive combined immunodeficiency due to CD40 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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