765196004: Distal myotilinopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Distal myotilinopathy
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Distal myotilinopathy
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myofibrillar myopathy\Distal myotilinopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myofibrillar myopathy\Distal myotilinopathy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Distal myotilinopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Distal myotilinopathy

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
3657409018	Distal myotilinopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3657410011	Distal myotilinopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404507010	A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404508017	A rare, late adult-onset myofibrillar myopathy characterised by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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