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autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'jagunal homolog 1' (aandoening)
autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'jagunal homolog 1'
autosomaal recessieve ernstige congenitale neutropenie door JAGN1-deficiëntie
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 (jagunal homolog 1) deficiency
A rare genetic primary immunodeficiency disorder with characteristics of early-onset recurrent severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (such as triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities may also be associated.
Id783199003
StatusPrimitive
Pathological processafwijkend immuunproces
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD70
RuleTRUE
AdviceALWAYS D70
CorrelationSNOMED CT source code to target map code correlation not specified