764992006: Muscle filaminopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Muscle filaminopathy
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Muscle filaminopathy
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Muscle filaminopathy
• \Disorder of skeletal muscle\Myofibrillar myopathy\Muscle filaminopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Muscle filaminopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Muscle filaminopathy
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Muscle filaminopathy
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Muscle filaminopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Muscle filaminopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myofibrillar myopathy\Muscle filaminopathy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Muscle filaminopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Muscle filaminopathy

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
3655974016	Muscle filaminopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655975015	Muscle filaminopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404442011	Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404443018	Muscle filaminopathy is a rare myofibrillar myopathy characterised by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655974016	Muscle filaminopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655975015	Muscle filaminopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655797013	A rare myofibrillar myopathy with characteristics of slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo or areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404442011	Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404443018	Muscle filaminopathy is a rare myofibrillar myopathy characterised by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425161001000110	Filaminopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
999251000172118	filaminopathie musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
999251000172118	filaminopathie musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3425161001000110	Filaminopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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