hereditaire aandoening
sideroblastische anemie
verlaagd aantal erytrocyten
verlaagd hemoglobine
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ernstige congenitale hypochrome anemie met ringsideroblasten (aandoening)
ernstige congenitale hypochrome anemie met ringsideroblasten
ernstige aangeboren hypochrome sideroblastische anemie
Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital hypochromic sideroblastic anemia
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.
Id725463007
StatusPrimitive
Has interpretationonder referentiebereik
Interpretstelling van erytrocyten
Has interpretationonder referentiebereik
InterpretsMeasurement of total hemoglobin concentration
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD64.0
TermHereditaire sideroblastische anemie
SNOMED CT to Orphanet simple map300298
SNOMED CT to ICD-10 extended map
TargetD64.0
RuleTRUE
AdviceALWAYS D64.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified