230670003: Familial infantile myasthenia (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\Familial infantile myasthenia

\Myasthenia gravis, juvenile form\Familial infantile myasthenia

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\...

\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia

\Myasthenia gravis, juvenile form\Familial infantile myasthenia

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

\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia

\Myasthenia gravis, juvenile form\Familial infantile myasthenia

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia

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

\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia

\Myasthenia gravis, juvenile form\Familial infantile myasthenia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of immune function\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of immune function\Immune-mediated neuropathy\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia
\Disease\Disorder of immune function\Immune hypersensitivity disorder by mechanism\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of immune function\Immune hypersensitivity disorder by mechanism\Antibody-mediated activation and inactivation\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia
\Disease\Disorder of immune function\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of immune function\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of immune function\Autoimmune disease\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Immune-mediated neuropathy\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia
\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\Familial infantile myasthenia
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia
\Disease\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia
\Disease\Congenital disease\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome\Familial infantile myasthenia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Myasthenia gravis\Myasthenia gravis, juvenile form\Familial infantile myasthenia

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

Descriptions:

Id Description Lang Type Status Case? Module

345607015 Familial infantile myasthenia en Synonym Active Case insensitive SNOMED CT core

345608013 FIM - Familial infantile myasthenia en Synonym Active Case sensitive SNOMED CT core

618510019 Familial infantile myasthenia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial infantile myasthenia	Finding site	Neuromuscular junction	true	Inferred relationship	Some	1
Familial infantile myasthenia	Pathological process	Autoimmune process	true	Inferred relationship	Some	1
Familial infantile myasthenia	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Familial infantile myasthenia	Pathological process	Autoimmune process	false	Inferred relationship	Some
Familial infantile myasthenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Familial infantile myasthenia	Due to	Immune hypersensitivity reaction	false	Inferred relationship	Some
Familial infantile myasthenia	Due to	Hypersensitivity reaction	false	Inferred relationship	Some
Familial infantile myasthenia	Is a	Genetically determined myasthenia	false	Inferred relationship	Some
Familial infantile myasthenia	Is a	Myasthenia gravis, juvenile form	true	Inferred relationship	Some
Familial infantile myasthenia	Pathological process	Hypersensitivity process	true	Inferred relationship	Some	3
Familial infantile myasthenia	Finding site	Structure of immune system	false	Inferred relationship	Some
Familial infantile myasthenia	Finding site	Neuromuscular junction	false	Inferred relationship	Some
Familial infantile myasthenia	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Familial infantile myasthenia	Is a	Congenital myasthenic syndrome	true	Inferred relationship	Some
Familial infantile myasthenia	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial infantile myasthenia	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acetylcholine resynthesis deficiency	Is a	False	Familial infantile myasthenia	Inferred relationship	Some

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
345607015	Familial infantile myasthenia	en	Synonym	Active	Case insensitive	SNOMED CT core
345608013	FIM - Familial infantile myasthenia	en	Synonym	Active	Case sensitive	SNOMED CT core
618510019	Familial infantile myasthenia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core