congenitale anomalie van chromosoompaar 6
paternale uniparentale disomie
||
paternale uniparentale disomie van chromosoom 6 (aandoening)
paternale uniparentale disomie van chromosoom 6
Paternal uniparental disomy of chromosome 6
Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
Id770670003
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 6
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96191
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified