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syndroom van ringchromosoom 9 (aandoening)
syndroom van ringchromosoom 9
ringchromosoom 9-syndroom
Ring chromosome 9 syndrome
An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies.
Id60650002
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 9
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96173
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2
CorrelationSNOMED CT source code to target map code correlation not specified