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.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen
SNOMED CT to Orphanet simple map391327
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q75.8
CorrelationSNOMED CT source code to target map code correlation not specified