|
gecombineerde immunodeficiëntie door partiële deficiëntie van 'recombination-activating gene 1' (aandoening)
gecombineerde immunodeficiëntie door partiële RAG1-deficiëntie
gecombineerde immunodeficiëntie door partiële deficiëntie van 'recombination-activating gene 1'
gecombineerde immunodeficiëntie met expansie van gamma-delta-T-cellen
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency
Combined immunodeficiency with expansion of gamma delta T cell
A form of combined T and B cell immunodeficiency with characteristics of severe and persistent cytomegalovirus infection and autoimmune cytopenia. Patients present before the age of one year with severe disseminated cytomegalovirus infection, which can manifest with fever and splenomegaly, and recurrent and severe co-infections including sepsis and pneumonitis. Caused by hypomorphic mutation in the RAG1 gene (11p13). This results in oligoclonal expansion of T cell receptor (TCR) gamma-delta T cells and TCR alpha-beta T cell lymphopenia. Transmission is autosomal recessive.
Id725290000
StatusPrimitive
Pathological processafwijkend immuunproces
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD81.8
RuleTRUE
AdviceALWAYS D81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified