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syndroom van ringchromosoom 20 (aandoening)
syndroom van ringchromosoom 20
ringchromosoom 20-syndroom
Ring chromosome 20 syndrome
Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.
Id23686004
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 20
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1444
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2
CorrelationSNOMED CT source code to target map code correlation not specified