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paternale uniparentale disomie van X-chromosoom (aandoening)
paternale uniparentale disomie van X-chromosoom
UPD(X)pat
paternale uniparentale disomie van geslachtschromosoom X
Paternal uniparental disomy of chromosome X
UPD(X)pat - paternal uniparental disomy of chromosome X
A uniparental disomy of paternal 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 father is a carrier and specific phenotype depends on the inherited disorder.
Id783718003
StatusDefined
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 map261524
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified