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764994007: myopathie met hexagonale cross-linked tubulaire rangschikking (aandoening)


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
10221891000146115 myopathie met hexagonale cross-linked tubulaire rangschikking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10221901000146119 myopathie met hexagonale cross-linked tubulaire rangschikking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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) false 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 true Inferred relationship Some 1
Myopathy with hexagonally cross-linked tubular arrays Is a Congenital myopathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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