763895001: Myosclerosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myosclerosis
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myosclerosis
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Myosclerosis
• \Disorder of skeletal muscle\Myosclerosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Myosclerosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myosclerosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Myosclerosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Myosclerosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myosclerosis
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Myosclerosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Myosclerosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myosclerosis
• \Disease\Myopathy\Disorder of skeletal muscle\Myosclerosis
• \Disease\Congenital disease\Myosclerosis
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myosclerosis

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3645182013	Myosclerosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3645183015	Myosclerosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3670041015	Congenital myosclerosis Lowenthal type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3645181018	A rare genetic non-dystrophic myopathy characterised by early diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofibre basement membrane and absent collagen VI around most endomysial/perimysial capillaries. There is evidence the disease is caused by homozygous mutation in the COL6A2 gene.	en	Definition	Active	Case sensitive	SNOMED CT core
3657273016	A rare genetic non-dystrophic myopathy characterized by early diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. There is evidence the disease is caused by homozygous mutation in the COL6A2 gene.	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

Back to Start