783248004: Hyperimmunoglobulin M syndrome with 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 with susceptibility to opportunistic infection
• \Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyper IgM syndrome\Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection
• \Congenital disease\Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyper IgM syndrome\Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3758259010	Hyper-IgM syndrome with susceptibility to opportunistic infections	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3758269016	Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3758270015	Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3758262013	A rare genetic non-severe combined immunodeficiency disorder with characteristics of 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.	en	Definition	Active	Case sensitive	SNOMED CT core
3758263015	A rare genetic non-severe combined immunodeficiency disorder with characteristics of 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). Haematologic disorders (neutropenia, anaemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal centre formation.	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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