| gecombineerde immunodeficiëntie door deficiëntie van interleukine-21-receptor (aandoening) | | gecombineerde immunodeficiëntie door deficiëntie van interleukine-21-receptor | | gecombineerde immunodeficiëntie door IL21R-deficiëntie
| | Combined immunodeficiency due to interleukin 21 receptor deficiency | | Combined immunodeficiency due to IL21R deficiency
| | A rare genetic non-severe combined immunodeficiency disorder with characteristics of variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency. The disease manifests with recurrent respiratory and/or gastrointestinal tract infections and in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection. |
| | Id | 784340000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D81.8 | | Term | Overige gespecificeerde gecombineerde immunodeficiënties |
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| SNOMED CT to Orphanet simple map | 357329 |
| SNOMED CT to ICD-10 extended map | | Target | D81.8 | | Rule | TRUE | | Advice | ALWAYS D81.8 | 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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