230677000: Congenital end-plate acetylcholinesterase deficiency (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)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)

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

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)

\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Immune hypersensitivity disorder by mechanism (disorder)\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of immune function (disorder)\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\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)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\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)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of acetylcholinesterase\Congenital end-plate acetylcholinesterase deficiency (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Congenital end-plate acetylcholinesterase deficiency (disorder)

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
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	Genetically determined myasthenia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	Deficiency of acetylcholinesterase	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Finding site	Neuromuscular junction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital end-plate acetylcholinesterase deficiency (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Due to	réaction d'hypersensibilité immunitaire	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Due to	Hypersensitivity reaction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Pathological process (attribute)	Hypersensitivity process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital end-plate acetylcholinesterase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	Myoneural disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	Neuropathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	Finding site	Neuromuscular junction	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	Congenital myasthenic syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital end-plate acetylcholinesterase deficiency (disorder)	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
345616016	Congenital end-plate acetylcholinesterase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618517016	Congenital end-plate acetylcholinesterase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
345616016	Congenital end-plate acetylcholinesterase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
345616016	Congenital end-plate acetylcholinesterase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618517016	Congenital end-plate acetylcholinesterase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
618517016	Congenital end-plate acetylcholinesterase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
110491000077111	déficit congénital de la plaque motrice en acétylcholinestérase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
248241000172115	déficience congénitale de l'acétylcholinestérase de la plaque motrice	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
110491000077111	déficit congénital de la plaque motrice en acétylcholinestérase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
248241000172115	déficience congénitale de l'acétylcholinestérase de la plaque motrice	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module