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syndroom van ringchromosoom 3 (aandoening)
syndroom van ringchromosoom 3
ringchromosoom 3-syndroom
Ring chromosome 3 syndrome
Ring chromosome 3
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are pre and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (including triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (clinodactyly, brachydactyly), cafe au lait patches and hypospadias.
Id765486004
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 3
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96172
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2
CorrelationSNOMED CT source code to target map code correlation not specified