congenitale anomalie van chromosomenpaar 13
paternale uniparentale disomie
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paternale uniparentale disomie van chromosoom 13 (aandoening)
paternale uniparentale disomie van chromosoom 13
Paternal uniparental disomy of chromosome 13
Paternal uniparental disomy of chromosome 13 is an 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.
Id770668007
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 13
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 map99324
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified