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syndroom van 17p11.2-microduplicatie (aandoening)
syndroom van 17p11.2-microduplicatie
17p11.2-microduplicatiesyndroom
17p11.2 microduplication syndrome
Potocki Lupski syndrome
Trisomy 17p11.2
A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17. The disorder has characteristics of hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies and sleep disturbance are also frequently associated.
Id734016004
StatusPrimitive
Associated morphologypartiƫle trisomie
Finding sitechromosomenpaar 17
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 map1713
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified