| 'vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic'-syndroom (aandoening) | | VEXAS-syndroom | | 'vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic'-syndroom
| | VEXAS syndrome | | Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome
| | A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11. |
| | Id | 1290093003 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | M35.8 | | Rule | TRUE | | Advice | ALWAYS M35.8 | 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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