770627003: Desmin-related myofibrillar myopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...
• \Myofibrillar myopathy\Desmin-related myofibrillar myopathy
• \Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\...
• \Myofibrillar myopathy\Desmin-related myofibrillar myopathy
• \Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Desmin-related myofibrillar myopathy
• \Disorder of skeletal muscle\Myofibrillar myopathy\Desmin-related myofibrillar myopathy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desmin-related myofibrillar myopathy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Desmin-related myofibrillar myopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Desmin-related myofibrillar myopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desmin-related myofibrillar myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Desmin-related myofibrillar myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myofibrillar myopathy\Desmin-related myofibrillar myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Desmin-related myofibrillar myopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Desmin-related myofibrillar myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
• \Disease\Developmental disorder\Developmental hereditary disorder\Desmin-related myofibrillar myopathy
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701691015	Desmin-related myofibrillar myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3701692010	Desminopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3701693017	Desmin-related myofibrillar myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3701694011	A rare genetic skeletal muscle disease with characteristics of 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 hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. Caused by heterozygous, homozygous, or compound heterozygous mutation in the desmin gene (DES) on chromosome 2q35.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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