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syndroom van auto-immuunhemolytische anemie, auto-immuuntrombocytopenie en primaire immunodeficiëntie (aandoening)
syndroom van auto-immuunhemolytische anemie, auto-immuuntrombocytopenie en primaire immunodeficiëntie
syndroom van auto-immuunhemolytische anemie, auto-immuuntrombocytopenie en PID
deficiëntie van tripeptidylpeptidase II
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 processauto-immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD89.8
TermOverige gespecificeerde aandoeningen waarbij immuunsysteem betrokken is, niet elders geclassificeerd
SNOMED CT to Orphanet simple map444463
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