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syndroom van ringchromosoom 1 (aandoening)
syndroom van ringchromosoom 1
ringchromosoom 1-syndroom
Ring chromosome 1 syndrome
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.
Id47017007
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 1
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1437
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2
CorrelationSNOMED CT source code to target map code correlation not specified