20305008: Congenital myotonia, autosomal recessive form (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...

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

\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital myotonia, autosomal recessive form
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form
\Disease\affection musculaire\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form
\Disease\Congenital disease\Myotonia congenita (disorder)\Congenital myotonia, autosomal recessive form
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\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

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

34147015 Congenital myotonia, 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 Common French translation module (core metadata concept)

689321000077113 myotonie congénitale transmise sur le mode autosomique récessif (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

749363012 Congenital myotonia, autosomal recessive form (disorder) en Fully specified name 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	est un(e) (attribut)	Myotonic disorder	false	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	est un(e) (attribut)	Congenital disease	false	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	survenue (attribut)	congénital	false	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital myotonia, autosomal recessive form	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
Congenital myotonia, autosomal recessive form	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	est un(e) (attribut)	Myotonia congenita (disorder)	true	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

Description inactivation indicator reference set