230672006: Congenital myasthenic syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\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\Congenital myasthenic syndrome

\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\Congenital myasthenic syndrome

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

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

\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome

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

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

345610010 Congenital myasthenia en Synonym Active Entire term case insensitive SNOMED CT core module
618512010 Congenital myasthenia (disorder) en Fully specified name Inactive Entire term case insensitive SNOMED CT core module
3854359019 Congenital myasthenic syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3854360012 Congenital myasthenic syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3854361011 Congenital myasthenia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital end-plate acetylcholine receptor deficiency	Is a	True	Congenital myasthenic syndrome	Inferred relationship	Existential restriction modifier
Familial infantile myasthenia	Is a	True	Congenital myasthenic syndrome	Inferred relationship	Existential restriction modifier
Acetylcholine resynthesis deficiency	Is a	True	Congenital myasthenic syndrome	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholinesterase deficiency	Is a	True	Congenital myasthenic syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
345610010	Congenital myasthenia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
618512010	Congenital myasthenia (disorder)	en	Fully specified name	Inactive	Entire term case insensitive	SNOMED CT core module
3854359019	Congenital myasthenic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3854360012	Congenital myasthenic syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3854361011	Congenital myasthenia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module