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82077006: Myotubular myopathy (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy

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

\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy

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
Myotubular myopathy	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Myotubular myopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Myotubular myopathy	est un(e) (attribut)	affection d'un muscle squelettique	false	Inferred relationship	Some
Myotubular myopathy	est un(e) (attribut)	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Myotubular myopathy	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Myotubular myopathy	survenue (attribut)	congénital	false	Inferred relationship	Some
Myotubular myopathy	est un(e) (attribut)	Congenital myopathy	false	Inferred relationship	Some
Myotubular myopathy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	1
Myotubular myopathy	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Myotubular myopathy	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Myotubular myopathy	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Myotubular myopathy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	2
Myotubular myopathy	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Myotubular myopathy	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myotubular myopathy with type I atrophy	est un(e) (attribut)	True	Myotubular myopathy	Inferred relationship	Some
Severe X-linked myotubular myopathy (disorder)	est un(e) (attribut)	True	Myotubular myopathy	Inferred relationship	Some
Autosomal recessive centronuclear myopathy	est un(e) (attribut)	True	Myotubular myopathy	Inferred relationship	Some
Autosomal dominant centronuclear myopathy (disorder)	est un(e) (attribut)	True	Myotubular myopathy	Inferred relationship	Some

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)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
136147016	Myotubular myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
136148014	Centronuclear myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
472651000241112	myopathie myotubulaire (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
537561000172110	myopathie myotubulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
823423014	Myotubular myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core