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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 JAGN1 (jagunal homolog 1) deficiency
Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by 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 (i.e. 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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD70
TermAgranulocytose
SNOMED CT to Orphanet simple map423384
SNOMED CT to ICD-10 extended map
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