paternale uniparentale disomie
|
mozaïk genoombrede paternale uniparentale disomie (aandoening)
mozaïk genoombrede paternale uniparentale disomie
mozaïk genoombrede paternale UPD
Mosaic genome-wide paternal uniparental disomy
Genome-wide paternal uniparental disomy mosaicism
A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.
Id783149002
StatusPrimitive
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosoom
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map329813
SNOMED CT to ICD-10 extended map
TargetQ95.8
RuleTRUE
AdviceALWAYS Q95.8
CorrelationSNOMED CT source code to target map code correlation not specified