partiële trisomie van chromosoom 3
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syndroom van 3q29-microduplicatie (aandoening)
syndroom van 3q29-microduplicatie
3q29-microduplicatiesyndroom
3q29-duplicatiesyndroom
3q29 microduplication
Trisomy 3q29
Chromosome 3q29 duplication syndrome
A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents.
Id717973004
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 3
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.3
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map251038
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified