autosomaal recessieve hereditaire aandoening
congenitale neutropenie
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autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van glucose-6-fosfatase katalytische subeenheid 3 (aandoening)
autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van glucose-6-fosfatase katalytische subeenheid 3
autosomaal recessieve ernstige congenitale neutropenie door G6PC3-deficiëntie
autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'glucose-6-phosphatase catalytic subunit 3'
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Severe congenital neutropenia type 4
Severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to recurrent life-threatening bacterial infections in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (for example atrial septal defects, patent ductus arteriosus, valvular defects), urogenital anomalies (including cryptorchidism), growth and developmental delay, facial dysmorphism (for example frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.
Id783058007
StatusPrimitive
Has interpretationonder referentiebereik
Interpretsbepalen van neutrofielen
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 map331176
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