770787005: myopathie congénitale bénigne des Samaritains (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\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Benign Samaritan congenital myopathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy (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\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702794016	Benign Samaritan congenital myopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702795015	Benign Samaritan congenital myopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
769911000241111	myopathie congénitale bénigne des Samaritains (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
919331000172118	myopathie congénitale bénigne des Samaritains	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3702796019	A rare genetic skeletal muscle disease with characteristics of severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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