| monocytopenie met gevoeligheid voor infecties (aandoening) | | monocytopenie met gevoeligheid voor infecties | | Monocytopenia with susceptibility to infections | | Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infection
Dendritic cell, monocyte, B and NK lymphoid deficiency
Monocytopenia and mycobacterial infection syndrome
MonoMAC
Monocyte-B natural killer dendritic cell deficiency syndrome
| | A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. |
| | Id | 778024005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D72.8 | | Term | Overige gespecificeerde aandoeningen van witte bloedcellen |
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| SNOMED CT to Orphanet simple map | 228423 |
| SNOMED CT to ICD-10 extended map | | Target | D72.8 | | Rule | TRUE | | Advice | ALWAYS D72.8 | 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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