deficiëntie van T-cellen met alfa-bèta-positieve T-celreceptor (aandoening)
deficiëntie van T-cellen met alfa-bèta-positieve T-celreceptor
TCR-alfa-bèta-positieve T-celdeficiëntie
deficiëntie van T-cellen met alfa-bèta-positieve TCR
T-cell receptor alpha-beta-positive T-cell deficiency
TCR (T-cell receptor) alpha-beta-positive T-cell deficiency
A rare hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11.
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
Term'Common variable'-immunodeficiëntie met hoofdzakelijk immunoregulatoire T-cel-stoornissen
SNOMED CT to Orphanet simple map397959
SNOMED CT to ICD-10 extended map
AdviceALWAYS D83.1
CorrelationSNOMED CT source code to target map code correlation not specified