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

• SNOMED CT Concept\constatation clinique\Disease\...
• \trouble de la fonction immunitaire\troubles d'immunodéficience\...
• \Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)
• \Congenital immunodeficiency disease\Congenital hypergammaglobulinemia\Hyperimmunoglobulin M syndrome\Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)
• \Congenital disease\Congenital immunodeficiency disease\Congenital hypergammaglobulinemia\Hyperimmunoglobulin M syndrome\Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758271016	Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758272011	Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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