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\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome

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

\Musculoskeletal finding\Musculoskeletal disorder\...

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

\Disorder of skeletal muscle\Myoneural disorder\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\Neurological disorder\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome
\Disease\Disorder of body system\Neurological disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome
\Disease\Congenital disease\Congenital myasthenic syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome

Status: current, Defined. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345610010 Congenital myasthenia en Synonym Active Case insensitive SNOMED CT core

3854359019 Congenital myasthenic syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3854360012 Congenital myasthenic syndrome en Synonym Active Case insensitive SNOMED CT core

3854361011 Congenital myasthenia syndrome en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

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