malformatiesyndroom met betrokkenheid van meerdere systemen
partiële trisomie van chromosoom 22
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'cat-eye'-syndroom (aandoening)
'cat-eye'-syndroom
kattenoogsyndroom
CES
syndroom van Schmid-Fraccaro
cat-eyesyndroom
Cat eye syndrome
CES - Cat eye syndrome
Schachenmann's syndrome
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal
Id26445008
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 22
Occurrencecongenitaal
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map195
SNOMED CT to ICD-10 extended map
TargetQ92.8
RuleTRUE
AdviceALWAYS Q92.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified