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syndroom van kleine gestalte, atresie van uitwendige gehoorgang, hypoplasie van mandibula en skeletafwijkingen (aandoening)
syndroom van kleine gestalte, atresie van uitwendige gehoorgang, hypoplasie van mandibula en skeletafwijkingen
syndroom van kleine gestalte, gehoorgangatresie, hypoplasie van mandibula en skeletafwijkingen
SAMS-syndroom
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome
SAMS syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32.
Id774155009
StatusPrimitive
Associated morphologyhypoplasie
Finding sitebotstructuur van mandibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatresie
Finding sitestructuur van meatus acusticus externus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified