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SIX homeobox 2-related frontonasal dysplasia (disorder)
SIX2-related frontonasal dysplasia
SIX homeobox 2-related frontonasal dysplasia
A rare frontonasal dysplasia with characteristics of a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge and broad nasal tip. Large anterior fontanel, sagittal synostosis, and cranial base anomalies have also been described.
SIX homeobox 2-gerelateerde frontonasale dysplasie
SIX2-gerelateerde frontonasale dysplasie
Id1172632008
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure of cranium
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
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