| 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 with characteristics of 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. |
| | Id | 1222681008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 444463 |
| SNOMED CT to ICD-10 extended map | | Target | D89.8 | | Rule | TRUE | | Advice | ALWAYS D89.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
