230677000: Congenital end-plate acetylcholinesterase deficiency (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
345616016	Congenital end-plate acetylcholinesterase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618517016	Congenital end-plate acetylcholinesterase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
248241000172115	déficience congénitale de l'acétylcholinestérase de la plaque motrice	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
285211000172119	congenitale eindplaat-acetylcholinesterase-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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