718850008: dystrophie musculaire des ceintures autosomique récessive type 2E (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \constatation à propos d'un muscle\affection musculaire\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\affection dégénérative\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\affection musculaire\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
• \Disease\trouble du développement\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314130019	Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314131015	Autosomal recessive limb girdle muscular dystrophy type 2E	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314132010	Limb girdle muscular dystrophy due to beta-sarcoglycan deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753221000241118	dystrophie musculaire des ceintures autosomique récessive type 2E (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
892711000172111	bêta-sarcoglycanopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
909951000172111	dystrophie musculaire des ceintures autosomique récessive type 2E	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3314133017	Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy with characteristics of limb-girdle weakness, particularly of the pelvic girdle muscles.	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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