1351274008: Symptomatic form of X-linked centronuclear myopathy in female carrier (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\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Disease\Genetic disease\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5406306017	Symptomatic form of X-linked myotubular myopathy in female carrier	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406307014	Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406308016	Symptomatic form of X-linked centronuclear myopathy in female carrier	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406309012	A rare centronuclear myopathy characterized by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5406310019	A rare centronuclear myopathy characterised by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic.	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)

Description inactivation indicator reference set

Back to Start