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\Myoneural 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\Myoneural 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\Myoneural 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 foetus and/or newborn\Congenital disease (disorder)\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\Myoneural 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\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural 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\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural 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
1457451000005117	Kongenit acetylkolinesterasemangel i endeplader	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	dansk modul

Expanded Value Set

This concept is not in any reference sets

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