| ziekte van B-celexpansie met 'nuclear factor kappa-light-chain-enhancer of activated B-cells' en T-celanergie (aandoening) | | BENTA-ziekte | | ziekte van B-celexpansie met nucleaire factor-kappa-B en T-celanergie
ziekte van B-celexpansie met 'nuclear factor kappa-light-chain-enhancer of activated B-cells' en T-celanergie
ziekte van B-celexpansie met NF-kB en T-celanergie
| | BENTA disease | | B-cell expansion with NF-kB and T-cell anergy disease
BENTA (B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy) disease
B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease
| | A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly and lymphocytosis with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported. |
| | Id | 1179300002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 464336 |
| 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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