1236844002: Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Finding of power of skeletal muscle (finding)\Muscle weakness\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Muscle finding (finding)\Finding of power of skeletal muscle (finding)\Muscle weakness\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Musculoskeletal finding (finding)\Finding of power of skeletal muscle (finding)\Muscle weakness\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (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 (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5089274018	Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089275017	EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089276016	Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400247012	A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400248019	A rare congenital myopathy characterised by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089274018	Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089275017	EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089276016	Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089278015	A rare congenital myopathy with characteristics of early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400247012	A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400248019	A rare congenital myopathy characterised by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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