1197157004: Severe congenital nemaline myopathy (disorder)

• SNOMED CT Concept\Clinical 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\Myopathy\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\Musculoskeletal disorder\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 body system\Musculoskeletal disorder\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Severe congenital nemaline myopathy
• \Disease\Congenital disease\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, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4695213012	Severe congenital nemaline myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
4695214018	Severe congenital nemaline myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4695215017	A severe form of nemaline myopathy with characteristics of severe hypotonia with little spontaneous movement in neonates. Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of the disease. Transmission is autosomal recessive or occurs sporadically. Survival after infancy is rare.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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