| neutrofiel immunodeficiëntiesyndroom (aandoening) | | neutrofiel immunodeficiëntiesyndroom | | neutrofiel immuundeficiëntiesyndroom
| | Neutrophil immunodeficiency syndrome | | A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signaling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown. |
| | Id | 723443003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D71 | | Term | Functionele stoornissen van polymorfonucleaire neutrofielen |
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| SNOMED CT to Orphanet simple map | 183707 |
| SNOMED CT to ICD-10 extended map | | Target | D71 | | Rule | TRUE | | Advice | ALWAYS D71 | 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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