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syndroom van ringchromosoom 10 (aandoening)
syndroom van ringchromosoom 10
ringchromosoom 10-syndroom
Ring chromosome 10 syndrome
An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases.
Id86997002
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 10
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1438
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2
CorrelationSNOMED CT source code to target map code correlation not specified