230672006: Congenital myasthenic syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\The disposition to develop an allergic or pseudoallergic reaction, the reaction itself or its consequences.\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\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\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\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\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)\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\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\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\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\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\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital myasthenic syndrome (disorder)	Is a	Genetically determined myasthenia	true	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Finding site	Neuromuscular junction	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Is a	Congenital disease	true	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Due to	réaction d'hypersensibilité immunitaire	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Due to	A pathological process initiated by exposure to a defined stimulus at a dose tolerated by normal persons. It may be the manifestation of a disposition to hypersensitivity.	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Pathological process (attribute)	An immune or non-immune mediated pathological process that represents the underlying mechanism of hypersensitivity conditions.	true	Inferred relationship	Some	3
Congenital myasthenic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital myasthenic syndrome (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital myasthenic syndrome (disorder)	Finding site	Neuromuscular junction	true	Inferred relationship	Some	1
Congenital myasthenic syndrome (disorder)	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	1
Congenital myasthenic syndrome (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital end-plate acetylcholine receptor deficiency	Is a	True	Congenital myasthenic syndrome (disorder)	Inferred relationship	Some
Familial infantile myasthenia	Is a	True	Congenital myasthenic syndrome (disorder)	Inferred relationship	Some
Acetylcholine resynthesis deficiency	Is a	True	Congenital myasthenic syndrome (disorder)	Inferred relationship	Some
Congenital end-plate acetylcholinesterase deficiency	Is a	True	Congenital myasthenic syndrome (disorder)	Inferred relationship	Some
Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation	Is a	True	Congenital myasthenic syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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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
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
76751000077112	myasthénie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419471001000115	Kongenitales myasthenes Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module