1217226000: Progressive scapulohumeroperoneal distal myopathy (disorder)

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

Expanded Value Set

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

Inbound Relationships

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Reference Sets

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

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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