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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
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