Autosomal recessive SCID (severe combined immunodeficiency disease)
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Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with expansion of gamma delta T cell
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency
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.
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
Id725290000
StatusPrimitive
OccurrenceCongenital
Finding siteBody system structure
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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