230676009: Putative defect in acetylcholine synthesis or packaging (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 (disorder)\Putative defect in acetylcholine synthesis or packaging

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Putative defect in acetylcholine synthesis or packaging

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Putative defect in acetylcholine synthesis or packaging

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)\Putative defect in acetylcholine synthesis or packaging

\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Putative defect in acetylcholine synthesis or packaging

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Putative defect in acetylcholine synthesis or packaging	Is a	Genetically determined myasthenia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Putative defect in acetylcholine synthesis or packaging	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Putative defect in acetylcholine synthesis or packaging	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Putative defect in acetylcholine synthesis or packaging	Finding site	Neuromuscular junction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Putative defect in acetylcholine synthesis or packaging	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Putative defect in acetylcholine synthesis or packaging	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Putative defect in acetylcholine synthesis or packaging	Due to	réaction d'hypersensibilité immunitaire	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Putative defect in acetylcholine synthesis or packaging	Due to	Hypersensitivity reaction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Putative defect in acetylcholine synthesis or packaging	Pathological process (attribute)	Hypersensitivity process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Putative defect in acetylcholine synthesis or packaging	Finding site	Neuromuscular junction	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Putative defect in acetylcholine synthesis or packaging	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
345615017	Putative defect in acetylcholine synthesis or packaging	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618516013	Putative defect in acetylcholine synthesis or packaging (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
345615017	Putative defect in acetylcholine synthesis or packaging	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
345615017	Putative defect in acetylcholine synthesis or packaging	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618516013	Putative defect in acetylcholine synthesis or packaging (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
618516013	Putative defect in acetylcholine synthesis or packaging (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
248421000172111	défaut putatif dans la synthèse ou l'emballage de l'acétylcholine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
248421000172111	défaut putatif dans la synthèse ou l'emballage de l'acétylcholine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module