1217226000: Progressive scapulohumeroperoneal distal myopathy (disorder)

Id Description Lang Type Status Case? Module

5035205012 Progressive scapulohumeroperoneal distal myopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5035206013 Progressive scapulohumeroperoneal distal myopathy en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive scapulohumeroperoneal distal myopathy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Progressive scapulohumeroperoneal distal myopathy	Is a	Distal muscular dystrophy	true	Inferred relationship	Some
Progressive scapulohumeroperoneal distal myopathy	Clinical course	Progressive	true	Inferred relationship	Some	2
Progressive scapulohumeroperoneal distal myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Progressive scapulohumeroperoneal distal myopathy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Progressive scapulohumeroperoneal distal myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Clinical finding foundation reference set

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Id	Description	Lang	Type	Status	Case?	Module
5035205012	Progressive scapulohumeroperoneal distal myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5035206013	Progressive scapulohumeroperoneal distal myopathy	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core