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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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD61.0
TermConstitutionele aplastische anemie
SNOMED CT to Orphanet simple map397692
SNOMED CT to ICD-10 extended map
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0
CorrelationSNOMED CT source code to target map code correlation not specified