1201862006: Autosomal recessive central core disease (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\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive central core disease
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \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\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\trouble du développement\Developmental hereditary disorder\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\myopathie congénitale à "central cores" (trouble)\Autosomal recessive central core disease

Status: current, 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
4945369015	Autosomal recessive central core disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945370019	Autosomal recessive central core disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945371015	Autosomal recessive central core myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945372010	An autosomal recessive hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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