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hyperimmunoglobuline M-syndroom zonder gevoeligheid voor opportunistische infectie (aandoening)
hyperimmunoglobuline M-syndroom zonder gevoeligheid voor opportunistische infectie
hyper-IgM-syndroom zonder gevoeligheid voor opportunistische infectie
Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection
Hyper-IgM syndrome without susceptibility to opportunistic infections
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.
Id783249007
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD80.5
TermImmunodeficiƫntie met verhoogd immunoglobuline M [IgM]
SNOMED CT to Orphanet simple map183666
SNOMED CT to ICD-10 extended map
TargetD80.5
RuleTRUE
AdviceALWAYS D80.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified