| 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 with characteristics of 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 (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q. |
| | 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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