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
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ99.8
TermOverige gespecificeerde chromosoomafwijkingen
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