congenitale anomalie van X-chromosoom
maternale uniparentale disomie
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maternale uniparentale disomie van X-chromosoom (aandoening)
maternale uniparentale disomie van X-chromosoom
UPD(X)mat
maternale uniparentale disomie van geslachtschromosoom X
Maternal uniparental disomy of chromosome X
UPD(X)mat - maternal uniparental disomy of chromosome X
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.
Id783735004
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ99.8
TermOverige gespecificeerde chromosoomafwijkingen
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified