congenitale anomalie van chromosomenpaar 16
maternale uniparentale disomie
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maternale uniparentale disomie van chromosoom 16 (aandoening)
maternale uniparentale disomie van chromosoom 16
Maternal uniparental disomy of chromosome 16
Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.
Id773299000
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 16
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96185
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified