| 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. |
| | Id | 782786001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q75.8 | | Term | Overige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen |
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| SNOMED CT to Orphanet simple map | 391327 |
| SNOMED CT to ICD-10 extended map | | Target | Q75.8 | | Rule | TRUE | | Advice | ALWAYS Q75.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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