230677000: Congenital end-plate acetylcholinesterase 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 acetylcholinesterase deficiency

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

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

\Musculoskeletal finding\Musculoskeletal disorder\...

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of immune function\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase 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 acetylcholinesterase deficiency
\Disease\Disorder of immune function\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of immune function\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\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\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of acetylcholinesterase\Congenital end-plate acetylcholinesterase deficiency
\Disease\Congenital disease\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Congenital end-plate acetylcholinesterase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345616016 Congenital end-plate acetylcholinesterase deficiency en Synonym Active Case insensitive SNOMED CT core

618517016 Congenital end-plate acetylcholinesterase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
345616016	Congenital end-plate acetylcholinesterase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
618517016	Congenital end-plate acetylcholinesterase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core