783248004: Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of immune function (disorder)\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Combined immunodeficiency disease\Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection
• \Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyperimmunoglobulin M syndrome\Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyperimmunoglobulin M syndrome\Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection

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
3758259010	Hyper-IgM syndrome with susceptibility to opportunistic infections	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758269016	Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758270015	Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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