Autosomal recessive SCID (severe combined immunodeficiency disease)
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Combined immunodeficiency due to CD3gamma deficiency (disorder)
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to CD3-gamma deficiency
An extremely rare genetic combined primary immunodeficiency with characteristics of selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant auto-immune manifestations.
gecombineerde immunodeficiëntie door CD3-gamma-deficiëntie
gecombineerde immuundeficiëntie door CD3-gamma-deficiëntie
Id725135004
StatusPrimitive
OccurrenceCongenital
Finding siteBody system structure
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified