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gecombineerde immunodeficiëntie door deficiëntie van 'FCH and mu domain containing endocytic adaptor 1' (aandoening)
gecombineerde immunodeficiëntie door FCHO1-deficiëntie
gecombineerde immunodeficiëntie door deficiëntie van 'FCH and mu domain containing endocytic adaptor 1'
Combined immunodeficiency due to FCHO1 deficiency
Combined immunodeficiency due to FCH and mu domain containing endocytic adaptor 1 deficiency
A rare, combined T and B cell immunodeficiency characterized by early-onset of recurrent severe bacterial, viral, and fungal infections. Many patients present failure to thrive. Occurrence of lymphoma, as well as neurologic features, have been reported in some cases. Laboratory examination shows decreased CD4+ T cells and variable B cell lymphopenia and hypogammaglobulinemia.
Id1340041000
StatusPrimitive
Pathological processafwijkend immuunproces
SNOMED CT to ICD-10 extended map
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