20305008: Congenital myotonia, autosomal recessive form (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal recessive form

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal recessive form

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

\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form

\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal recessive form

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital myotonia, autosomal recessive form
\Disease\Fetal and/or neonatal disorder\Congenital disease\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal recessive form
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal recessive form
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal recessive form
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal recessive form

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 myotonia, autosomal recessive form	Is a	Myotonic disorder	false	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Is a	Congenital disease	false	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Occurrence	Congenital	false	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital myotonia, autosomal recessive form	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital myotonia, autosomal recessive form	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Is a	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	true	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
34147015	Congenital myotonia, autosomal recessive form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
749363012	Congenital myotonia, autosomal recessive form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1222419014	Becker myotonia congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1222420015	Myotonia congenita - autosomal recessive form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
67111000077116	myotonie congénitale transmise sur le mode autosomique récessif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module