congenitale anomalie van chromosoompaar 2
maternale uniparentale disomie
||
maternale uniparentale disomie van chromosoom 2 (aandoening)
maternale uniparentale disomie van chromosoom 2
Maternal uniparental disomy of chromosome 2
Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Id766237006
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 2
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96179
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified