230672006: congenitale myasthenie (aandoening)

• 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)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\...
• \Congenital combined disorder of muscle and peripheral nerve (disorder)\Congenital myasthenic syndrome (disorder)
• \Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Muscle finding\Disorder of muscle\...
• \Hereditary myopathy (disorder)\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disorder of skeletal muscle\Myoneural disorder\...
• \Congenital combined disorder of muscle and peripheral nerve (disorder)\Congenital myasthenic syndrome (disorder)
• \Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disorder of skeletal muscle\Myoneural disorder\...
• \Congenital combined disorder of muscle and peripheral nerve (disorder)\Congenital myasthenic syndrome (disorder)
• \Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Immune hypersensitivity disorder by mechanism (disorder)\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune disorder of neuromuscular transmission (disorder)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital combined disorder of muscle and peripheral nerve (disorder)\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital myasthenic syndrome (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)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Autoimmune disorder of neuromuscular transmission (disorder)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Congenital myasthenic syndrome (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)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Autoimmune disorder of neuromuscular transmission (disorder)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Congenital myasthenic syndrome (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)
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Congenital myasthenic syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
345610010	Congenital myasthenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618512010	Congenital myasthenia (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
3854359019	Congenital myasthenic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3854360012	Congenital myasthenic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3854361011	Congenital myasthenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12001000146117	erfelijke aandoening van neuromusculaire overgang	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
594981000146116	congenitale myasthenie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
594991000146119	congenitale myasthenie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

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