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hereditaire geïsoleerde aplastische anemie (aandoening)
hereditaire geïsoleerde aplastische anemie
erfelijke geïsoleerde aplastische anemie
Hereditary isolated aplastic anemia
A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.
Id783255002
StatusPrimitive
Associated morphologyaplasia
Finding sitestructuur van beenmerg
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsPlatelet count
Has interpretationafwijkend
Interpretshemostase
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0
CorrelationSNOMED CT source code to target map code correlation not specified