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Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder)
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome
TPPII-related immunodeficiency, autoimmunity and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
Evans syndrome associated with primary immunodeficiency
TRIANGLE (TPPII-related immunodeficiency, autoimmunity, neurodevelopmental delay, impaired glycolysis, lysosomal expansion) disease
Tripeptidyl-peptidase II deficiency
TPPII (tripeptidyl-peptidase II) deficiency
A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.
Id1222681008
StatusPrimitive
Pathological processAutoimmune process
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetD89.8
RuleTRUE
AdviceALWAYS D89.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified