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
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