782786001: X-linked calvarial hyperostosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\X-linked calvarial hyperostosis

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked calvarial hyperostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked calvarial hyperostosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked calvarial hyperostosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked calvarial hyperostosis
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked calvarial hyperostosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked calvarial hyperostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked calvarial hyperostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked calvarial hyperostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked calvarial hyperostosis

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

9923881000172110 hyperostose de la voute crânienne liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11473561000172112 hyperostose de la voute crânienne liée au chromosome X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5544991000172116 X-gebonden calvariale hyperostose nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

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 (attribute)	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

This concept is not in any reference sets

Back to Start

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
9923881000172110	hyperostose de la voute crânienne liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11473561000172112	hyperostose de la voute crânienne liée au chromosome X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5544991000172116	X-gebonden calvariale hyperostose	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)