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
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 map261519
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified