1172591008: Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of spine\Curvature of spine\Kyphosis deformity of spine\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Finding of back\Finding of spinal region\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Finding of back\Finding of spinal region\Deformity of spine\Curvature of spine\Kyphosis deformity of spine\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding\Finding of mouth region\Oral cavity finding\Tongue finding\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding\Disorder of digestive system\Chronic digestive system disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \General finding of soft tissue\Tongue finding\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of mouth region\...
• \Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Oral cavity finding\Tongue finding\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Kyphosis deformity of spine\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Chronic disease of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Degenerative disorder\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Chronic digestive system disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Kyphosis deformity of spine\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Chronic disease\Chronic digestive system disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of tongue\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634499018	Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4634500010	Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4634501014	A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.	en	Definition	Active	Case sensitive	SNOMED CT core
4634502019	A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioural abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fibre size variation, internalised nuclei, fibre atrophy, as well as rod structures and core targetoid defects.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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