congenitale anomalie van chromosoompaar 1
maternale uniparentale disomie
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maternale uniparentale disomie van chromosoom 1 (aandoening)
maternale uniparentale disomie van chromosoom 1
UPD(1)mat
Maternal uniparental disomy of chromosome 1
Maternal uniparental disomy of chromosome 1 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Id770562000
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 1
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 map251009
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified