726051002: Myotonia congenita (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).

\Muscle finding\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).

\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).

\Disease\Disorder of foetus and/or newborn\Congenital disease\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
\Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
\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).

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3447742018 A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5403523015 A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403524014 A rare, genetic, skeletal muscle channelopathy characterised by slow muscle relaxation after contraction (myotonia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447739012 Myotonia congenita (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447740014 Myotonia congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447741013 Congenital myotonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Is a	Congenital disease	true	Inferred relationship	Some
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Is a	Myotonic disorder	true	Inferred relationship	Some
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital myotonia, autosomal recessive form	Is a	True	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	True	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Inferred relationship	Some
A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.	Is a	False	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Inferred relationship	Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3447742018	A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403523015	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403524014	A rare, genetic, skeletal muscle channelopathy characterised by slow muscle relaxation after contraction (myotonia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447739012	Myotonia congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447740014	Myotonia congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447741013	Congenital myotonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core