congenitale anomalie van chromosomenpaar 22
maternale uniparentale disomie
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maternale uniparentale disomie van chromosoom 22 (aandoening)
maternale uniparentale disomie van chromosoom 22
UPD(22)mat
Maternal uniparental disomy of chromosome 22
UPD(22)mat - maternal uniparental disomy of chromosome 22
Maternal uniparental disomy of chromosome 22 is 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.
Id782692004
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 22
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96188
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified