723407009: Muscular dystrophy Selcen type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Muscular dystrophy Selcen type
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Muscular dystrophy Selcen type
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Muscular dystrophy Selcen type
• \Disorder of skeletal muscle\Myofibrillar myopathy\Muscular dystrophy Selcen type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscular dystrophy Selcen type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Muscular dystrophy Selcen type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscular dystrophy Selcen type
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Muscular dystrophy Selcen type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myofibrillar myopathy\Muscular dystrophy Selcen type
• \Disease\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Muscular dystrophy Selcen type
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Muscular dystrophy Selcen type

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424457013	Muscular dystrophy Selcen type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3424458015	Muscular dystrophy Selcen type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3424461019	Selcen muscular dystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
3424459011	Disease characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions and apoptosis of a small fraction of the nuclei distinguish the disease. Caused by a mutation in the BAG3 gene, encoding a protein localized to the Z disk. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core
3424460018	Disease characterised by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions and apoptosis of a small fraction of the nuclei distinguish the disease. Caused by a mutation in the BAG3 gene, encoding a protein localised to the Z disk. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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