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

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

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

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia
\Disease\Disorder of immune function (disorder)\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of immune function (disorder)\Immune hypersensitivity disorder by mechanism (disorder)\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Genetically determined myasthenia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia

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	Reference Sets
345606012	Genetically determined myasthenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
618509012	Genetically determined myasthenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
85711000172115	myasthénie génétiquement déterminée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)	Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
517161000172113	genetisch bepaalde myasthenie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)	Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetically determined myasthenia	Is a	Myasthenia gravis	true	Inferred relationship	Some
Genetically determined myasthenia	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Genetically determined myasthenia	Finding site	Neuromuscular junction (cell structure)	false	Inferred relationship	Some
Genetically determined myasthenia	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Genetically determined myasthenia	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Some
Genetically determined myasthenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Genetically determined myasthenia	Due to	Immune hypersensitivity reaction	false	Inferred relationship	Some
Genetically determined myasthenia	Due to	Hypersensitivity reaction (disorder)	false	Inferred relationship	Some
Genetically determined myasthenia	Pathological process (attribute)	Hypersensitivity process (qualifier value)	true	Inferred relationship	Some	3
Genetically determined myasthenia	Finding site	Neuromuscular junction (cell structure)	true	Inferred relationship	Some	1
Genetically determined myasthenia	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Genetically determined myasthenia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Genetically determined myasthenia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Genetically determined myasthenia	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	1

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

Reference Sets

Description inactivation indicator reference set

GB English

US English

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