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
A uniparental disomy of chromosome 13 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 the mother is a carrier.
Id770563005
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 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