726051002: Myotonia congenita (disorder)

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

\Disease\Fetal and/or neonatal disorder\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)\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
\Disease\Disorder of muscle\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).

Descriptions:

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
Richieri Costa-da Silva syndrome is 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. No facial dysmorphism nor joint limitation is 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

Id	Description	Lang	Type	Status	Case?	Module
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
6046711000241110	myotonie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449351001000111	Myotonia congenita Typ Thomsen und Becker	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module