Abdominal organomegaly	Autosomal recessive hereditary disorder	Congenital enlarged kidney	Congenital neutropenia	Developmental hereditary disorder	Hereditary nephropathy	Hereditary white blood cell disorder	Myelofibrosis
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Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)
	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.
	syndroom van congenitale neutropenie, myelofibrose en nefromegalie
	VPS45-deficiëntie aangeboren neutrocytopenie-beenmergfibrose-nefromegalie-syndroom congenitaal neutropenie-myelofibrose-nefromegalie-syndroom

Id	775909002
Status	Primitive

Associated morphology	Reticulin fibrosis
Finding site	Bone marrow structure
Occurrence	Congenital

Associated morphology	Enlargement
Finding site	Entire kidney
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Neutrophil count

Pathological process

Abnormal immune process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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