230670003: Familial infantile myasthenia (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\Congenital myasthenic syndrome (disorder)\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 (disorder)\Familial infantile myasthenia

\Myasthenia gravis, juvenile form\Familial infantile myasthenia

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

\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)\Familial infantile myasthenia

\Myasthenia gravis, juvenile form\Familial infantile myasthenia

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

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

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

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

345607015 Familial infantile myasthenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
345608013 FIM - Familial infantile myasthenia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
618510019 Familial infantile myasthenia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
356651000052117 familjär infantil myasteni sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Familial infantile myasthenia	Finding site	Neuromuscular junction (cell structure)	false	Inferred relationship	Some
Familial infantile myasthenia	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Familial infantile myasthenia	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Some
Familial infantile myasthenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Familial infantile myasthenia	Due to	immunologisk överkänslighetsreaktion	false	Inferred relationship	Some
Familial infantile myasthenia	Due to	Hypersensitivity reaction (disorder)	false	Inferred relationship	Some
Familial infantile myasthenia	Pathological process (attribute)	Hypersensitivity process (qualifier value)	true	Inferred relationship	Some	3
Familial infantile myasthenia	Is a	Congenital myasthenic syndrome (disorder)	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
Familial infantile myasthenia	Finding site	Neuromuscular junction (cell structure)	true	Inferred relationship	Some	1
Familial infantile myasthenia	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	1
Familial infantile myasthenia	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2

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

This concept is not in any reference sets