57938005: Congenital myotonia, autosomal dominant 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)\myotonie congénitale, forme autosomique dominante

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\myotonie congénitale, forme autosomique dominante

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

\Hereditary disorder of musculoskeletal system\myotonie congénitale, forme autosomique dominante

\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\myotonie congénitale, forme autosomique dominante

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\myotonie congénitale, forme autosomique dominante
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\myotonie congénitale, forme autosomique dominante
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\myotonie congénitale, forme autosomique dominante
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\myotonie congénitale, forme autosomique dominante
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\myotonie congénitale, forme autosomique dominante
\Disease\affection musculaire\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\myotonie congénitale, forme autosomique dominante
\Disease\Congenital disease\Myotonia congenita (disorder)\myotonie congénitale, forme autosomique dominante
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\myotonie congénitale, forme autosomique dominante

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

125891000077111 myotonie congénitale, forme autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

227071000172115 myotonie congénitale autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

398401000077111 myotonie congénitale, forme autosomique dominante (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

498018015 Myotonia congenita - autosomal dominant form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

498020017 Thomsen's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

498021018 Thomsen myotonia congenita en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

796615016 Congenital myotonia, autosomal dominant form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

96321017 Congenital myotonia, autosomal dominant 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
myotonie congénitale, forme autosomique dominante	est un(e) (attribut)	Myopathy (disorder)	false	Inferred relationship	Some
myotonie congénitale, forme autosomique dominante	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
myotonie congénitale, forme autosomique dominante	est un(e) (attribut)	Myotonic disorder	false	Inferred relationship	Some
myotonie congénitale, forme autosomique dominante	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
myotonie congénitale, forme autosomique dominante	est un(e) (attribut)	Congenital disease	false	Inferred relationship	Some
myotonie congénitale, forme autosomique dominante	survenue (attribut)	congénital	false	Inferred relationship	Some
myotonie congénitale, forme autosomique dominante	survenue (attribut)	congénital	true	Inferred relationship	Some	1
myotonie congénitale, forme autosomique dominante	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
myotonie congénitale, forme autosomique dominante	est un(e) (attribut)	Myotonia congenita (disorder)	true	Inferred relationship	Some
myotonie congénitale, forme autosomique dominante	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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)