770722002: Proximal myopathy with extrapyramidal signs (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Finding of movement\Movement disorder\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy (disorder)\Proximal myopathy with extrapyramidal signs
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Proximal myopathy (disorder)\Proximal myopathy with extrapyramidal signs
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disorder of skeletal muscle\Proximal myopathy (disorder)\Proximal myopathy with extrapyramidal signs
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Proximal myopathy with extrapyramidal signs
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 (disorder)\Hereditary disorder of nervous system (disorder)\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Proximal myopathy (disorder)\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Proximal myopathy (disorder)\Proximal myopathy with extrapyramidal signs
• \Disease\Disorder of head (disorder)\Disorder of brain\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 (disorder)\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
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
3702248018	A rare hereditary non-dystrophic myopathy with characteristics of proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported and include ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. There is evidence the disease is caused by homozygous mutation in the MICU1 gene on chromosome 10q22.	en	Definition	Active	Entire term case sensitive (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
3416481001000111	Proximale Myopathie mit extrapyramidalen Zeichen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
980891000172117	myopathie proximale avec signes extrapyramidaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
980891000172117	myopathie proximale avec signes extrapyramidaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416481001000111	Proximale Myopathie mit extrapyramidalen Zeichen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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