| syndroom van immunodisregulatie, inflammatoire darmziekte, artritis, recidiverende infectie en lymfocytopenie (aandoening) | | syndroom van immunodisregulatie, inflammatoire darmziekte, artritis, recidiverende infectie en lymfocytopenie | | syndroom van immuundisregulatie, IBD, artritis, recidiverende infectie en lymfopenie
| | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome | | A rare genetic immune disease characterized by early onset of recurrent bacterial, viral and fungal infections, chronic inflammatory bowel disease, gastritis and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia. |
| | Id | 1186654001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 529977 |
| SNOMED CT to ICD-10 extended map | | Target | K52.8 | | Rule | TRUE | | Advice | ALWAYS K52.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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