763315005: myopathie congénitale à début pseudo-myasthénique (trouble)

• 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\Congenital myopathy with myasthenic-like onset (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Congenital myopathy with myasthenic-like onset (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset (disorder)
• \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\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Congenital myopathy with myasthenic-like onset (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638519018	Congenital myopathy with myasthenic-like onset (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638520012	Congenital myopathy with myasthenic-like onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
765801000241115	myopathie congénitale à début pseudo-myasthénique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
998021000172112	myopathie congénitale à début pseudo-myasthénique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3638521011	A rare genetic, non-dystrophic myopathy with characteristics of fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.	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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