acute myeloïde leukemie
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acute myeloïde leukemie met gemuteerde CCAAT/enhancer binding protein alpha (aandoening)
acute myeloïde leukemie met gemuteerde CCAAT/enhancer binding protein alpha
acute myeloïde leukemie met gemuteerde CEBPA
AML met gemuteerde CEBPA
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with CCAAT/enhancer binding protein alpha somatic mutation
A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).
Id764855007
StatusDefined
Associated morphologyacute myeloïde leukemie met mutatie in gen voor 'CCAAT enhancer binding protein alpha'
Finding sitestructuur van beenmerg
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetC92.0
TermAcute myeloblastenleukemie [AML]
SNOMED CT to Orphanet simple map319480
SNOMED CT to ICD-10 extended map
TargetC92.0
RuleTRUE
AdviceALWAYS C92.0 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified
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acute myeloïde leukemie met biallelische mutatie in gen voor 'CCAAT enhancer binding protein alpha'