230669004: Genetically determined myasthenia (disorder)

SNOMED CT Concept\Clinical finding\...

\Hypersensitivity condition\Immune hypersensitivity disorder by mechanism\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Myasthenia gravis\Genetically determined myasthenia

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Myasthenia gravis\Genetically determined myasthenia

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

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia

\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\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\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of immune function\Immune hypersensitivity disorder by mechanism\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of immune function\Hereditary disorder of immune system\Genetically determined myasthenia
\Disease\Disorder of immune function\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\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Genetically determined myasthenia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Combined disorder of muscle AND peripheral nerve\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of body system\Disorder of nervous system\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\Combined disorder of muscle AND peripheral nerve\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Myasthenia gravis\Genetically determined myasthenia

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

Descriptions:

Id Description Lang Type Status Case? Module

345606012 Genetically determined myasthenia en Synonym Active Entire term case insensitive SNOMED CT core module

618509012 Genetically determined myasthenia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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

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	Active	Entire term case insensitive	SNOMED CT core module
618509012	Genetically determined myasthenia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module