anemie door enzymopathie
autosomaal recessieve hereditaire aandoening
hereditaire niet-sferocytaire hemolytische anemie
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hemolytische anemie door deficiëntie van adenylaatkinase (aandoening)
hemolytische anemie door deficiëntie van adenylaatkinase
hemolytische anemie door adenylaatkinasedeficiëntie
Hemolytic anemia due to adenylate kinase deficiency
A rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
Id766982000
StatusDefined
Has interpretationonder referentiebereik
Interpretstelling van erytrocyten
Finding siteerytrocyt
Has interpretationonder referentiebereik
InterpretsMeasurement of total hemoglobin concentration
Due todeficiëntie van adenylaatkinase
Has interpretationaanwezig
Interpretshemolyse
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map86817
SNOMED CT to ICD-10 extended map
TargetD55.3
RuleTRUE
AdviceALWAYS D55.3
CorrelationSNOMED CT source code to target map code correlation not specified