autosomaal dominante hereditaire aandoening
syndroom van partiële trisomie 14q
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14q32-duplicatiesyndroom (aandoening)
14q32-duplicatiesyndroom
predispositie voor myeloproliferatief neoplasma beginnend op volwassen leeftijd door 14q32-duplicatie
trisomie 14q32
14q32 duplication syndrome
Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
Trisomy 14q32
A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukaemia, chronic myelomonocytic leukaemia and myeloproliferative neoplasms especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukaemia can be observed.
Id1234830005
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitestructuur van lange arm van chromosoom
Occurrencecongenitaal
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 14
Occurrencecongenitaal
SNOMED CT to Orphanet simple map488280
SNOMED CT to ICD-10 extended map
TargetQ92.8
RuleTRUE
AdviceALWAYS Q92.8
CorrelationSNOMED CT source code to target map code correlation not specified