hereditaire geïsoleerde aplastische anemie (aandoening) DEPRECATED
hereditaire geïsoleerde aplastische anemie
erfelijke geïsoleerde aplastische anemie
Hereditary isolated aplastic anemia
Hereditary isolated aplastic anemia is 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
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2026-07-01)
REPLACED BY association reference set716336002 | congenitale amegakaryocytaire trombocytopenie | (2026-07-01)
SNOMED CT to Orphanet simple map
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD61.0
TermConstitutionele aplastische anemie