63135006: Amyotonia congenita (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Amyotonia congenita

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Amyotonia congenita

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

\Hereditary disorder of musculoskeletal system\Amyotonia congenita

\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Amyotonia congenita

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Amyotonia congenita
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Amyotonia congenita
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Amyotonia congenita
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Amyotonia congenita
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Amyotonia congenita
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Neuromuscular junction disorder\anomalie de la transmission neuromusculaire\Amyotonia congenita
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Amyotonia congenita
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\Amyotonia congenita
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Neuromuscular junction disorder\anomalie de la transmission neuromusculaire\Amyotonia congenita
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Amyotonia congenita
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Amyotonia congenita
\Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Amyotonia congenita
\Disease\Congenital disease\Amyotonia congenita
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Amyotonia congenita

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Amyotonia congenita	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Amyotonia congenita	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Amyotonia congenita	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Amyotonia congenita	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Amyotonia congenita	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
Amyotonia congenita	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Amyotonia congenita	localisation d'une constatation (attribut)	Neuromuscular junction (cell structure)	true	Inferred relationship	Some	2
Amyotonia congenita	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
Amyotonia congenita	est un(e) (attribut)	affection d'un muscle squelettique	false	Inferred relationship	Some
Amyotonia congenita	localisation d'une constatation (attribut)	Neuromuscular junction (cell structure)	false	Inferred relationship	Some
Amyotonia congenita	est un(e) (attribut)	affection des muscles et des nerfs périphériques combinée (trouble)	true	Inferred relationship	Some
Amyotonia congenita	est un(e) (attribut)	anomalie de la transmission neuromusculaire	true	Inferred relationship	Some
Amyotonia congenita	est un(e) (attribut)	Myopathy (disorder)	false	Inferred relationship	Some
Amyotonia congenita	est un(e) (attribut)	affection d'un muscle squelettique	false	Inferred relationship	Some
Amyotonia congenita	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some
Amyotonia congenita	localisation d'une constatation (attribut)	structure du système nerveux périphérique	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
104952014	Amyotonia congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104953016	Oppenheim's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
104954010	Congenital atonic pseudoparalysis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499491010	Oppenheim's amyotonia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
802385015	Amyotonia congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core