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syndroom van ringchromosoom 4 (aandoening)
syndroom van ringchromosoom 4
ringchromosoom 4-syndroom
Ring chromosome 4 syndrome
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.
Id81678004
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 4
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1447
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2
CorrelationSNOMED CT source code to target map code correlation not specified