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\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia

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

\Musculoskeletal finding\Musculoskeletal disorder\...

\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\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\Neurological disorder\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Genetically determined myasthenia
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia
\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
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia
\Disease\Myopathy\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, Defined. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345606012 Genetically determined myasthenia en Synonym Active Case insensitive SNOMED CT core

618509012 Genetically determined myasthenia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetically determined myasthenia	Finding site	Neuromuscular junction	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	Autoimmune process	true	Inferred relationship	Some	1
Genetically determined myasthenia	Pathological process	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	false	Inferred relationship	Some
Genetically determined myasthenia	Is a	Myasthenia gravis	true	Inferred relationship	Some
Genetically determined myasthenia	Pathological process	Hypersensitivity process	true	Inferred relationship	Some	3
Genetically determined myasthenia	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Genetically determined myasthenia	Finding site	Neuromuscular junction	false	Inferred relationship	Some
Genetically determined myasthenia	Finding site	Structure of immune system	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial infantile myasthenia	Is a	False	Genetically determined myasthenia	Inferred relationship	Some
Congenital myasthenic syndrome	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	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

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
345606012	Genetically determined myasthenia	en	Synonym	Active	Case insensitive	SNOMED CT core
618509012	Genetically determined myasthenia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core