autosomaal recessieve hereditaire aandoening
gecombineerde immunodeficiëntie
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deficiëntie van 'major histocompatibility complex' klasse II (aandoening)
deficiëntie van 'major histocompatibility complex' klasse II
MHC klasse II-deficiëntie
MHC-II-deficiëntie
Major histocompatibility complex class II deficiency
Bare lymphocyte syndrome type II
MHC (major histocompatibility complex) class II deficiency
Immunodeficiency by defective expression of major histocompatibility complex class II
Bare lymphocyte syndrome type 2
A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.
Id191002000
StatusPrimitive
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.7
TermDeficiëntie van 'major histocompatibility complex class II'
SNOMED CT to ICD-10 extended map
TargetD81.7
RuleTRUE
AdviceALWAYS D81.7
CorrelationSNOMED CT source code to target map code correlation not specified
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Major histocompatibility complex class II deficiency due to CIITA mutation
Major histocompatibility complex class II deficiency due to RFX5 mutation
Major histocompatibility complex class II deficiency due to RFXANK mutation
Major histocompatibility complex class II deficiency due to RFXAP mutation