764859001: Laing early-onset distal myopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Muscle finding (finding)\Disorder of muscle\...
• \Degenerative disorder of muscle (disorder)\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Chronic disease of musculoskeletal system\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Genetic disease\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Laing early-onset distal myopathy
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Developmental disorder (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
• \Disease\Developmental disorder (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy

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
3655416016	Distal myopathy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655417013	Laing early-onset distal myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655418015	Gowers disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655419011	Laing early-onset distal myopathy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404398010	Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404399019	Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterised by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655416016	Distal myopathy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655417013	Laing early-onset distal myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655418015	Gowers disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655419011	Laing early-onset distal myopathy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655420017	Disease with characteristics of early-onset selective weakness of the great toe and ankle dorsiflexors and a very slowly progressive course. Age at onset varies from 4 to 5 years to the early twenties. Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. Mild proximal weakness develops more than ten years after the onset of the disease. Caused by mutation of the MYH7 gene (14q11) and transmitted as an autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404398010	Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404399019	Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterised by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3416691001000112	Myopathie, distale, Typ Laing	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
981601000172117	MPD1 - myopathie distale type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1013231000172119	myopathie distale précoce type Laing	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
981601000172117	MPD1 - myopathie distale type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1013231000172119	myopathie distale précoce type Laing	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416691001000112	Myopathie, distale, Typ Laing	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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