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Zechi-Ceide-syndroom (aandoening)
Zechi-Ceide-syndroom
syndroom van occipitale atretische encephalocele, afwijkend aangezicht en grote voeten
syndroom van Zechi-Ceide
Zechi Ceide syndrome
Occipital atretic cephalocele, unusual facies, large feet syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.
Id773307006
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyprotrusie
Finding sitestructuur van occipitaalkwab
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyherniatie
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified