| immunodeficiëntie door CD25-deficiëntie (aandoening) | | immunodeficiëntie door CD25-deficiëntie | | interleukine-2-receptor-alfa-ketendeficiëntie
| | Immunodeficiency due to CD25 deficiency | | Interleukin-2 receptor alpha chain deficiency
| | A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of severe immunodeficiency. The disease presents with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease such as alopecia universalis, erythrodermia and autoimmune thyroiditis and enteropathy. Caused by homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15. |
| | Id | 778028008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D81.2 | | Term | 'Severe combined immunodeficiency' [SCID] met lage of normale aantallen B-cellen |
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| SNOMED CT to Orphanet simple map | 169100 |
| SNOMED CT to ICD-10 extended map | | Target | D81.2 | | Rule | TRUE | | Advice | ALWAYS D81.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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