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
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Disease\Genetic disease\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy

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
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
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

Expanded Value Set

Reference Sets

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

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