770722002: myopathie proximale avec signes extrapyramidaux (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \affection d'un muscle squelettique\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Proximal myopathy with extrapyramidal signs
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Proximal myopathy with extrapyramidal signs
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Proximal myopathy with extrapyramidal signs
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Proximal myopathy with extrapyramidal signs
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \Disease\affection musculaire\affection d'un muscle squelettique\Proximal myopathy\Proximal myopathy with extrapyramidal signs
• \Disease\affection de la tête\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\affection d'un muscle squelettique\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
769751000241113	myopathie proximale avec signes extrapyramidaux (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
980891000172117	myopathie proximale avec signes extrapyramidaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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