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

• SNOMED CT Concept\constatation clinique\...
• \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 acetylcholine receptor deficiency
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\trouble de la fonction immunitaire\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\trouble de la fonction immunitaire\Immune hypersensitivity disorder by mechanism (disorder)\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\trouble de la fonction immunitaire\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Neuromuscular junction disorder\anomalie de la transmission neuromusculaire\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Neuromuscular junction disorder\anomalie de la transmission neuromusculaire\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Congenital disease\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholine receptor deficiency
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\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:

Id	Description	Lang	Type	Status	Case?	Module
345611014	Congenital end-plate acetylcholine receptor deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
510311000172114	déficience congénitale des récepteurs de l'acétylcholine de la plaque motrice	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
546851000241117	déficience congénitale des récepteurs de l'acétylcholine de la plaque motrice (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
618513017	Congenital end-plate acetylcholine receptor deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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