|
gecombineerde immunodeficiëntie door CD3-gamma-deficiëntie (aandoening)
gecombineerde immunodeficiëntie door CD3-gamma-deficiëntie
gecombineerde immuundeficiëntie door CD3-gamma-deficiëntie
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.
Id725135004
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.2
Term'Severe combined immunodeficiency' [SCID] met lage of normale aantallen B-cellen
SNOMED CT to Orphanet simple map169082
SNOMED CT to ICD-10 extended map
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified