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syndroom van plat gelaat, microstomie en ooranomalie (aandoening)
syndroom van plat gelaat, microstomie en ooranomalie
syndroom van Simosa-Penchaszadeh-Bustos
craniofaciaal syndroom van Simosa
syndroom van blefarofimose, telecanthus en microstomie
Flat face, microstomia, ear anomaly syndrome
Simosa craniofacial syndrome
Simosa Penchaszadeh Bustos syndrome
Blepharophimosis, telecanthus, microstomia syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated.
Id773750003
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van mondregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van auris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified