| syndroom van congenitale neutropenie, myelofibrose en nefromegalie (aandoening) | | syndroom van congenitale neutropenie, myelofibrose en nefromegalie | | congenitaal neutropenie-myelofibrose-nefromegalie-syndroom
VPS45-deficiëntie
aangeboren neutrocytopenie-beenmergfibrose-nefromegalie-syndroom
| | Congenital neutropenia, myelofibrosis, nephromegaly syndrome | | Congenital neutropenia, bone marrow fibrosis, nephromegaly syndrome
VPS45 deficiency
| | A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). |
| | Id | 775909002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D70 | | Term | Agranulocytose |
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| SNOMED CT to Orphanet simple map | 369852 |
| SNOMED CT to ICD-10 extended map | | Target | D70 | | Rule | TRUE | | Advice | ALWAYS D70 | 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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