autosomaal recessieve hereditaire aandoening
congenitale ziekte
sideroblastische anemie
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autosomaal recessieve sideroblastische anemie (aandoening)
autosomaal recessieve sideroblastische anemie
Autosomal recessive sideroblastic anemia
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
Id717050005
StatusPrimitive
Occurrencecongenitaal
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD64.0
TermHereditaire sideroblastische anemie
SNOMED CT to ICD-10 extended map
TargetD64.0
RuleTRUE
AdviceALWAYS D64.0
CorrelationSNOMED CT source code to target map code correlation not specified