240086009: Myopathy with cytoplasmic inclusions (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\...

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions (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

359692015 Myopathy with cytoplasmic inclusions en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629180012 Myopathy with cytoplasmic inclusions (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5036691000241111 myopathie à inclusions cytoplasmiques 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
Myopathy with cytoplasmic inclusions (disorder)	Is a	Congenital myopathy with abnormal subcellular organelles	false	Inferred relationship	Some
Myopathy with cytoplasmic inclusions (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions (disorder)	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Myopathy with cytoplasmic inclusions (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Myopathy with cytoplasmic inclusions (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Myopathy with cytoplasmic inclusions (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Myopathy with cytoplasmic inclusions (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Myopathy with cytoplasmic inclusions (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions (disorder)	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Inclusion body myopathy 2 (disorder)	Is a	True	Myopathy with cytoplasmic inclusions (disorder)	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Is a	True	Myopathy with cytoplasmic inclusions (disorder)	Inferred relationship	Some
A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes.	Is a	True	Myopathy with cytoplasmic inclusions (disorder)	Inferred relationship	Some
X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.	Is a	True	Myopathy with cytoplasmic inclusions (disorder)	Inferred relationship	Some
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.	Is a	True	Myopathy with cytoplasmic inclusions (disorder)	Inferred relationship	Some
A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.	Is a	True	Myopathy with cytoplasmic inclusions (disorder)	Inferred relationship	Some
Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	Is a	True	Myopathy with cytoplasmic inclusions (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
359692015	Myopathy with cytoplasmic inclusions	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629180012	Myopathy with cytoplasmic inclusions (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036691000241111	myopathie à inclusions cytoplasmiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module