764994007: Myopathy with hexagonally cross-linked tubular arrays (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy (disorder)\Myopathy with hexagonally cross-linked tubular arrays (disorder)

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Proximal myopathy (disorder)\Myopathy with hexagonally cross-linked tubular arrays (disorder)

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Proximal myopathy (disorder)\Myopathy with hexagonally cross-linked tubular arrays (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Myopathy with hexagonally cross-linked tubular arrays (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Proximal myopathy (disorder)\Myopathy with hexagonally cross-linked tubular arrays (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Proximal myopathy (disorder)\Myopathy with hexagonally cross-linked tubular arrays (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy (disorder)\Myopathy with hexagonally cross-linked tubular arrays (disorder)

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

3655980012 Myopathy with hexagonally cross-linked tubular arrays en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3655981011 Myopathy with hexagonally cross-linked tubular arrays (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404446014 Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404447017 Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterised by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organised hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3655980012 Myopathy with hexagonally cross-linked tubular arrays en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3655981011 Myopathy with hexagonally cross-linked tubular arrays (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3655986018 A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterised by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organised hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3655987010 A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404446014 Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404447017 Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterised by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organised hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3390261001000111 Myopathie mit hexagonal verknüpften tubulären Aggregaten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

983491000172110 myopathie avec configuration hexagonale des tubules fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

983491000172110 myopathie avec configuration hexagonale des tubules fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3390261001000111 Myopathie mit hexagonal verknüpften tubulären Aggregaten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myopathy with hexagonally cross-linked tubular arrays (disorder)	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myopathy with hexagonally cross-linked tubular arrays (disorder)	Is a	Proximal myopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myopathy with hexagonally cross-linked tubular arrays (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Myopathy with hexagonally cross-linked tubular arrays (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3655980012	Myopathy with hexagonally cross-linked tubular arrays	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655981011	Myopathy with hexagonally cross-linked tubular arrays (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404446014	Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404447017	Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterised by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organised hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655980012	Myopathy with hexagonally cross-linked tubular arrays	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655981011	Myopathy with hexagonally cross-linked tubular arrays (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655986018	A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterised by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organised hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655987010	A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404446014	Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404447017	Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterised by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organised hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3390261001000111	Myopathie mit hexagonal verknüpften tubulären Aggregaten	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
983491000172110	myopathie avec configuration hexagonale des tubules	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
983491000172110	myopathie avec configuration hexagonale des tubules	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3390261001000111	Myopathie mit hexagonal verknüpften tubulären Aggregaten	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module