230671004: Acetylcholine resynthesis 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)\Acetylcholine resynthesis deficiency

\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency

\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)\Acetylcholine resynthesis deficiency

\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\...

\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency

\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency

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

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency

\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\...

\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency

\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Immune hypersensitivity disorder by mechanism (disorder)\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Immune hypersensitivity disorder by mechanism (disorder)\Antibody-mediated activation and inactivation\Myasthenia gravis\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency
\Disease\Disorder of immune function (disorder)\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of immune function (disorder)\Immune-mediated neuropathy\Myasthenia gravis\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Myasthenia gravis\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency
\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)\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\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)\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Myoneural disorder\Myasthenia gravis\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency
\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)\Acetylcholine resynthesis deficiency
\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\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\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)\Acetylcholine resynthesis deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia (disorder)\Congenital myasthenic syndrome (disorder)\Acetylcholine resynthesis deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Myasthenia gravis, juvenile form\Acetylcholine resynthesis deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

345609017 Acetylcholine resynthesis deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618511015 Acetylcholine resynthesis deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

345609017 Acetylcholine resynthesis deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

345609017 Acetylcholine resynthesis deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618511015 Acetylcholine resynthesis deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

618511015 Acetylcholine resynthesis deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

352281000172119 déficience de la resynthèse de l'acétylcholine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

352281000172119 déficience de la resynthèse de l'acétylcholine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acetylcholine resynthesis deficiency	Is a	Familial infantile myasthenia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Finding site	Neuromuscular junction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Due to	réaction d'hypersensibilité immunitaire	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Due to	Hypersensitivity reaction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Pathological process (attribute)	Hypersensitivity process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acetylcholine resynthesis deficiency	Is a	Myasthenia gravis, juvenile form	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Is a	Congenital myasthenic syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetylcholine resynthesis deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acetylcholine resynthesis deficiency	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acetylcholine resynthesis deficiency	Finding site	Neuromuscular junction	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acetylcholine resynthesis deficiency	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acetylcholine resynthesis deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets