congenitale anomalie van chromosomenpaar 13
maternale uniparentale disomie
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maternale uniparentale disomie chromosoom 13 (aandoening)
maternale uniparentale disomie chromosoom 13
Maternal uniparental disomy of chromosome 13
Maternal uniparental disomy of chromosome 13 is a uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Id770563005
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 13
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map97678
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified