congenitale anomalie van chromosoompaar 6
maternale uniparentale disomie
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maternale uniparentale disomie van chromosoom 6 (aandoening)
maternale uniparentale disomie van chromosoom 6
Maternal uniparental disomy of chromosome 6
Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
Id766239009
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 6
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 map96181
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified