1197157004: Severe congenital nemaline myopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \Disease\Genetic disease\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5399708015	Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399709011	Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterised by severe hypotonia with little spontaneous movement in neonates.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695213012	Severe congenital nemaline myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695214018	Severe congenital nemaline myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7729931000241111	myopathie congénitale sévère à bâtonnets	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7729941000241118	myopathie congénitale sévère à némaline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3412081001000119	Nemalin-Myopathie, kongenitale schwere	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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