230673001: Congenital end-plate acetylcholine receptor deficiency (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\Congenital end-plate acetylcholine receptor deficiency

\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\Congenital end-plate acetylcholine receptor deficiency

\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\Congenital end-plate acetylcholine receptor deficiency

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

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency

\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of immune function\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of immune function\Immune hypersensitivity disorder by mechanism\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of immune function\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of immune function\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\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\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\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\Congenital end-plate acetylcholine receptor deficiency
\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\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\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\Congenital end-plate acetylcholine receptor deficiency
\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\Congenital end-plate acetylcholine receptor deficiency
\Disease\Congenital disease\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholine receptor deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

345611014 Congenital end-plate acetylcholine receptor deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

618513017 Congenital end-plate acetylcholine receptor deficiency (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
Congenital end-plate acetylcholine receptor deficiency	Is a	Congenital myasthenic syndrome	true	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholine receptor deficiency	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholine receptor deficiency	Finding site	Neuromuscular junction	false	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholine receptor deficiency	Finding site	Structure of immune system	false	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholine receptor deficiency	Pathological process	Autoimmune process	false	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholine receptor deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholine receptor deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholine receptor deficiency	Due to	Immune hypersensitivity reaction	false	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholine receptor deficiency	Due to	Hypersensitivity reaction	false	Inferred relationship	Existential restriction modifier
Congenital end-plate acetylcholine receptor deficiency	Pathological process	Hypersensitivity process	true	Inferred relationship	Existential restriction modifier	3
Congenital end-plate acetylcholine receptor deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital end-plate acetylcholine receptor deficiency	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Congenital end-plate acetylcholine receptor deficiency	Finding site	Neuromuscular junction	true	Inferred relationship	Existential restriction modifier	1
Congenital end-plate acetylcholine receptor deficiency	Pathological process	Autoimmune process	true	Inferred relationship	Existential restriction modifier	1
Congenital end-plate acetylcholine receptor deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2

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
345611014	Congenital end-plate acetylcholine receptor deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
618513017	Congenital end-plate acetylcholine receptor deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module