congenitale anomalie van chromosoompaar 5
paternale uniparentale disomie
||
paternale uniparentale disomie van chromosoom 5 (aandoening)
paternale uniparentale disomie van chromosoom 5
Paternal uniparental disomy of chromosome 5
Paternal uniparental disomy of chromosome 5 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.
Id770669004
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 5
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96190
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified