230673001: Congenital end-plate acetylcholine receptor deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Hypersensitivity condition\Immune hypersensitivity disorder by mechanism\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of immune function\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of immune function\Immune hypersensitivity disorder by mechanism\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of immune function\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Congenital disease\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
345611014	Congenital end-plate acetylcholine receptor deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
618513017	Congenital end-plate acetylcholine receptor deficiency (disorder)	en	Fully specified name	Active	Case insensitive	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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