764945007: Congenital myopathy with internal nuclei and atypical cores (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Congenital myopathy with internal nuclei and atypical cores
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital myopathy with internal nuclei and atypical cores
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Congenital myopathy with internal nuclei and atypical cores

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655707019	Centronuclear myopathy type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655708012	Congenital myopathy with internal nuclei and atypical cores (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655709016	Congenital myopathy with internal nuclei and atypical cores	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404414014	Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404415010	Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterised by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655707019	Centronuclear myopathy type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655708012	Congenital myopathy with internal nuclei and atypical cores (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655709016	Congenital myopathy with internal nuclei and atypical cores	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655710014	A rare genetic skeletal muscle disease with characteristics of neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404414014	Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404415010	Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterised by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3393681001000110	Kongenitale Myopathie mit internen Nuclei und atypischen Kernen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
912151000172117	myopathie congénitale avec noyaux centrés et cores atypiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
994391000172119	CNM4 - centronuclear myopathy type 4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
912151000172117	myopathie congénitale avec noyaux centrés et cores atypiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
994391000172119	CNM4 - centronuclear myopathy type 4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393681001000110	Kongenitale Myopathie mit internen Nuclei und atypischen Kernen	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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