| vroeg optredend syndroom van auto-immuniteit, auto-inflammatie en immunodeficiëntie door haplo-insufficiëntie van 'suppressor of cytokine signaling 1' (aandoening) | | vroeg optredend syndroom van auto-immuniteit, auto-inflammatie en immunodeficiëntie door haplo-insufficiëntie van SOCS1 | | vroeg optredend syndroom van auto-immuniteit, auto-inflammatie en immunodeficiëntie door haplo-insufficiëntie van 'suppressor of cytokine signaling 1'
SOCS1-gerelateerd auto-inflammatoir syndroom
| | Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to SOCS1 haploinsufficiency | | SOCS1-related autoinflammatory syndrome
Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency
| | A rare immunodeficiency syndrome with autoimmunity characterized by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy. |
| | Id | 1351844007 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | D84.8 | | Rule | TRUE | | Advice | ALWAYS D84.8 | 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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