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782786001: X-linked calvarial hyperostosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755757014 X-linked calvarial hyperostosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755758016 X-linked calvarial hyperostosis (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3755757014 X-linked calvarial hyperostosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755758016 X-linked calvarial hyperostosis (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3448731001000114 X-chromosomale Hyperostose der Schädelkalotte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590721000241111 hyperostose de la voûte crânienne liée au chromosome X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590721000241111 hyperostose de la voûte crânienne liée au chromosome X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448731001000114 X-chromosomale Hyperostose der Schädelkalotte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked calvarial hyperostosis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked calvarial hyperostosis Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked calvarial hyperostosis Is a Dysplasia with decreased bone density true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked calvarial hyperostosis Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked calvarial hyperostosis Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked calvarial hyperostosis Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked calvarial hyperostosis Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked calvarial hyperostosis Interprets Bone density scan true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked calvarial hyperostosis Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked calvarial hyperostosis Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked calvarial hyperostosis Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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