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myeloïd of lymfoïd neoplasma met 'platelet derived growth factor receptor alpha'-genherschikking (aandoening)
myeloïd of lymfoïd neoplasma met 'platelet derived growth factor receptor alpha'-genherschikking
myeloïd of lymfoïd neoplasma met herschikking van gen voor plaatjesafgeleide groeifactorreceptor alfa
myeloïd of lymfoïd neoplasma met PDGFRA-genherschikking
myeloïd of lymfoïd neoplasma met 'platelet derived growth factor receptor A'-genherschikking
Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
A rare malignant neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.
Id738527001
StatusDefined
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD47.1
TermChronische myeloproliferatieve aandoening
SNOMED CT to Orphanet simple map168947
SNOMED CT to ICD-10 extended map
TargetD47.9
RuleTRUE
AdviceALWAYS D47.9 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified