193255007: Proximal myopathy (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy (disorder)

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Proximal myopathy (disorder)

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Proximal myopathy (disorder)

\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Proximal myopathy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Proximal myopathy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

297647014 Proximal myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

577121017 Proximal myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

297647014 Proximal myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

297647014 Proximal myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

577121017 Proximal myopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

577121017 Proximal myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3951000172115 myopathie proximale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3951000172115 myopathie proximale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proximal myopathy (disorder)	Is a	Myopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal myopathy (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Proximal myopathy (disorder)	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary myopathy with early respiratory failure	Is a	True	Proximal myopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Myopathy with hexagonally cross-linked tubular arrays (disorder)	Is a	True	Proximal myopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal myopathy with extrapyramidal signs	Is a	True	Proximal myopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.	Is a	True	Proximal myopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets