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\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form

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

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

\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Myotonia congenita (disorder)\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\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\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:

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

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 (disorder)	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	Myotonia congenita (disorder)	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets