46804001: Severe X-linked myotubular myopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe X-linked myotubular myopathy
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe X-linked myotubular myopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular 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\Myotubular myopathy\Severe X-linked myotubular myopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
• \Disease\Developmental disorder\Developmental hereditary disorder\Severe X-linked myotubular myopathy
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4637471015	Severe X-linked myotubular myopathy (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4637472010	Severe X-linked myotubular myopathy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
494651015	X-linked centronuclear myopathy	en	Synonym	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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