770722002: Proximal myopathy with extrapyramidal signs (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Proximal myopathy with extrapyramidal signs
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Disease\Movement disorder\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702245015	Proximal myopathy with extrapyramidal signs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702246019	Proximal myopathy with extrapyramidal signs (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404893012	Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404894018	Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterised by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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