14q partial trisomy
Autosomal dominant hereditary disorder
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14q32 duplication syndrome (disorder)
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 morphologyPartial trisomy
Finding siteLong arm of chromosome
OccurrenceCongenital
Associated morphologyPartial trisomy
Finding siteChromosome pair 14
OccurrenceCongenital
ICD-10 complex map reference set
TargetQ92.8
RuleTRUE
AdviceALWAYS Q92.8
CorrelationSNOMED CT source code to target map code correlation not specified