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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked calvarial hyperostosis
• \Disease\Disorder of foetus and/or newborn\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\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\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

Expanded Value Set

This concept is not in any reference sets

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