82286005: Hyperimmunoglobulin M syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Hyperimmunoglobulin M syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

136491010 Hyperimmunoglobulin M syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

823676012 Hyperimmunoglobulin M syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1216993016 Immunodeficiency with IgM hypergammaglobulinaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1218484015 Immunodeficiency with IgM hypergammaglobulinemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1234699010 Hyper IgM syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperimmunoglobulin M syndrome	Is a	Congenital hypergammaglobulinemia	false	Inferred relationship	Some
Hyperimmunoglobulin M syndrome	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Hyperimmunoglobulin M syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Hyperimmunoglobulin M syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Hyperimmunoglobulin M syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Hyperimmunoglobulin M syndrome	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked hyper-IgM syndrome	Is a	False	Hyperimmunoglobulin M syndrome	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Is a	True	Hyperimmunoglobulin M syndrome	Inferred relationship	Some
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.	Is a	True	Hyperimmunoglobulin M syndrome	Inferred relationship	Some
Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by 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.	Is a	True	Hyperimmunoglobulin M syndrome	Inferred relationship	Some

This concept is not in any reference sets