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
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. It has been reported in 3 siblings to date. Caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire sideroblastische anemie
SNOMED CT to Orphanet simple map300298
SNOMED CT to ICD-10 extended map
AdviceALWAYS D64.0
CorrelationSNOMED CT source code to target map code correlation not specified