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 with characteristics of intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
Id770670003
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 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