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782786001: X-linked calvarial hyperostosis (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755757014 X-linked calvarial hyperostosis en Synonym Active Case sensitive SNOMED CT core
3755758016 X-linked calvarial hyperostosis (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3755760019 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. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked calvarial hyperostosis Occurrence Congenital true Inferred relationship Some 1
X-linked calvarial hyperostosis Pathological process Pathological developmental process true Inferred relationship Some 1
X-linked calvarial hyperostosis Is a Dysplasia with decreased bone density true Inferred relationship Some
X-linked calvarial hyperostosis Associated morphology Dysplasia true Inferred relationship Some 1
X-linked calvarial hyperostosis Finding site Bone structure true Inferred relationship Some 1
X-linked calvarial hyperostosis Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
X-linked calvarial hyperostosis Is a X-linked hereditary disease false Inferred relationship Some
X-linked calvarial hyperostosis Interprets Bone density scan true Inferred relationship Some 2
X-linked calvarial hyperostosis Has interpretation Below reference range true Inferred relationship Some 2
X-linked calvarial hyperostosis Is a Developmental hereditary disorder true Inferred relationship Some
X-linked calvarial hyperostosis Is a X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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