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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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