1217226000: Progressive scapulohumeroperoneal 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\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Muscle finding (finding)\Disorder of muscle\...
• \Degenerative disorder of muscle (disorder)\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Chronic disease of musculoskeletal system\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \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\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \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\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \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\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \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\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Developmental disorder (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)
• \Disease\Developmental disorder (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Progressive scapulohumeroperoneal distal myopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5035205012	Progressive scapulohumeroperoneal distal myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5035206013	Progressive scapulohumeroperoneal distal myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399920017	A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399921018	A rare genetic muscular dystrophy characterised by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibres and increased internal nuclei.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5035205012	Progressive scapulohumeroperoneal distal myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5035206013	Progressive scapulohumeroperoneal distal myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5035209018	A rare genetic muscular dystrophy with characteristics of progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow and shoulder and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5035210011	A rare genetic muscular dystrophy with characteristics of progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow and shoulder and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibres and increased internal nuclei.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399920017	A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399921018	A rare genetic muscular dystrophy characterised by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibres and increased internal nuclei.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3419421001000116	Progressive skapulo-humerale peroneale distale Myopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419421001000116	Progressive skapulo-humerale peroneale distale Myopathie	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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