193237003: Myotonic disorder (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myotonic disorder

\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myotonic disorder
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder

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

297624013 Myotonic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

577102013 Myotonic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

490061000172117 trouble myotonique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myotonic disorder	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Myotonic disorder	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	False	Myotonic disorder	Inferred relationship	Some
Paramyotonia congenita	Is a	True	Myotonic disorder	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	False	Myotonic disorder	Inferred relationship	Some
A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.	Is a	False	Myotonic disorder	Inferred relationship	Some
Infantile myotonia	Is a	True	Myotonic disorder	Inferred relationship	Some
Other specified myotonic disorder	Is a	False	Myotonic disorder	Inferred relationship	Some
Myotonic disorder NOS	Is a	False	Myotonic disorder	Inferred relationship	Some
Congenital myotonic dystrophy	Is a	False	Myotonic disorder	Inferred relationship	Some
Non dystrophic myotonia (disorder)	Is a	True	Myotonic disorder	Inferred relationship	Some
Myotonia caused by drug	Is a	True	Myotonic disorder	Inferred relationship	Some
Potassium aggravated myotonia (disorder)	Is a	True	Myotonic disorder	Inferred relationship	Some
Rippling muscle disease (disorder)	Is a	True	Myotonic disorder	Inferred relationship	Some
A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	Is a	False	Myotonic disorder	Inferred relationship	Some
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Is a	True	Myotonic disorder	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	True	Myotonic disorder	Inferred relationship	Some
Myotonic dystrophy (disorder)	Is a	True	Myotonic disorder	Inferred relationship	Some

This concept is not in any reference sets