230669004: Genetically determined myasthenia (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 (disorder)

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)

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

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

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)

\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Genetically determined myasthenia (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia (disorder)
\Disease\Immune hypersensitivity disorder by mechanism (disorder)\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia (disorder)
\Disease\Disorder of immune function (disorder)\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia (disorder)
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (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
Genetically determined myasthenia (disorder)	Is a	Myasthenia gravis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genetically determined myasthenia (disorder)	Finding site	Neuromuscular junction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Due to	réaction d'hypersensibilité immunitaire	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Due to	Hypersensitivity reaction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Pathological process (attribute)	Hypersensitivity process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Genetically determined myasthenia (disorder)	Finding site	Neuromuscular junction	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetically determined myasthenia (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder)	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial infantile myasthenia (disorder)	Is a	False	Genetically determined myasthenia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myasthenic syndrome (disorder)	Is a	True	Genetically determined myasthenia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudomyopathic myasthenia	Is a	True	Genetically determined myasthenia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Putative defect in acetylcholine synthesis or packaging	Is a	True	Genetically determined myasthenia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	False	Genetically determined myasthenia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Decrease of motor end-plate potential amplitude without acetylcholine receptor deficiency	Is a	True	Genetically determined myasthenia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Abnormality of synaptic vesicles	Is a	True	Genetically determined myasthenia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
345606012	Genetically determined myasthenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618509012	Genetically determined myasthenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
345606012	Genetically determined myasthenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
345606012	Genetically determined myasthenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618509012	Genetically determined myasthenia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
618509012	Genetically determined myasthenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
85711000172115	myasthénie génétiquement déterminée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
85711000172115	myasthénie génétiquement déterminée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module