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acute myeloïde leukemie met mutatie in NPM1 gen (aandoening)
acute myeloïde leukemie met mutatie in NPM1 gen
AML met mutatie in NPM1 gen
Acute myeloid leukemia with NPM1 somatic mutation
Acute myeloid leukemia with nucleophosmin 1 somatic mutation
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.
Id763309005
StatusDefined
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 map402026
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