T-cel-immuundeficiëntie met epidermodysplasia verruciformis (aandoening)
T-cel-immuundeficiëntie met epidermodysplasia verruciformis
T-cel-immunodeficiëntie door RHOH-deficiëntie
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell immunodeficiency due to RHOH deficiency
T-cell immunodeficiency due to ras homolog family member H deficiency
T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency
A rare primary immunodeficiency with characteristics of increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde immunodeficiënties
SNOMED CT to Orphanet simple map324294
SNOMED CT to ICD-10 extended map
AdviceALWAYS D84.8
CorrelationSNOMED CT source code to target map code correlation not specified