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 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\Congenital disease (disorder)\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
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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13700531000172117	ernstige congenitale 'rod body'-myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13700541000172112	ernstige congenitale nemalinemyopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

Back to Start