congenitale anomalie van chromosomenpaar 21
paternale uniparentale disomie
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paternale uniparentale disomie van chromosoom 21 (aandoening)
paternale uniparentale disomie van chromosoom 21
Paternal uniparental disomy of chromosome 21
Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Id766720000
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 21
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96195
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified