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syndroom van congenitale neutropenie, myelofibrose en nefromegalie (aandoening)
syndroom van congenitale neutropenie, myelofibrose en nefromegalie
VPS45-deficiƫntie
aangeboren neutrocytopenie-beenmergfibrose-nefromegalie-syndroom
congenitaal neutropenie-myelofibrose-nefromegalie-syndroom
Congenital neutropenia, myelofibrosis, nephromegaly syndrome
VPS45 deficiency
Congenital neutropenia, bone marrow fibrosis, nephromegaly syndrome
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.
Id775909002
StatusPrimitive
Associated morphologyreticulinefibrose
Finding sitestructuur van beenmerg
Occurrencecongenitaal
Associated morphologyvergroting
Finding sitegehele nier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD70
RuleTRUE
AdviceALWAYS D70 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified