1010712009: Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Muscle finding (finding)\Disorder of muscle\...
• \Degenerative disorder of muscle (disorder)\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Chronic disease of musculoskeletal system\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4213648012	Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4213649016	EDMD2 - autosomal dominant Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4213650016	Autosomal dominant Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4213648012	Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4213649016	EDMD2 - autosomal dominant Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4213650016	Autosomal dominant Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5601441000241110	dystrophie musculaire d'Emery-Dreifuss autosomique dominante	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5601441000241110	dystrophie musculaire d'Emery-Dreifuss autosomique dominante	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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