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764994007: 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
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
983491000172110 myopathie avec configuration hexagonale des tubules fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
1018571000172113 myopathie met hexagonale, kruiselings verbonden buisvormige rijen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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