783249007: Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Disorder of immune function\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Combined immunodeficiency disease\Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection
• \Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyper IgM syndrome\Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection
• \Congenital disease\Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyper IgM syndrome\Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3758267019	Hyper-IgM syndrome without susceptibility to opportunistic infections	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3758271016	Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3758272011	Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3758268012	A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of 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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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