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X-linked calvarial hyperostosis (disorder)
X-linked calvarial hyperostosis
A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of benign isolated calvarial thickening presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.
Id782786001
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBone density scan
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8
CorrelationSNOMED CT source code to target map code correlation not specified