autosomaal recessieve ernstige gecombineerde immunodeficiëntie
|
gecombineerde immunodeficiëntie door deficiëntie van 'zeta-chain associated protein kinase 70' (aandoening)
gecombineerde immunodeficiëntie door deficiëntie van 'zeta-chain associated protein kinase 70'
gecombineerde immunodeficiëntie door ZAP70-deficiëntie
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency
Combined immunodeficiency due to ZAP70 (Zeta-chain associated protein kinase 70) deficiency
A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.
Id716378008
StatusDefined
Due todeficiëntie van zètaketengeassocieerd proteïnekinase 70
Occurrencecongenitaal
Finding sitestructuur van lichaamssysteem
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.8
TermOverige gespecificeerde gecombineerde immunodeficiënties
SNOMED CT to Orphanet simple map911
SNOMED CT to ICD-10 extended map
TargetD81.8
RuleTRUE
AdviceALWAYS D81.8
CorrelationSNOMED CT source code to target map code correlation not specified