782883004: Fatal infantile hypertonic myofibrillar myopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Fatal infantile hypertonic myofibrillar myopathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Fatal infantile hypertonic myofibrillar myopathy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Fatal infantile hypertonic myofibrillar myopathy
• \Disorder of skeletal muscle\Myofibrillar myopathy\Fatal infantile hypertonic myofibrillar myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fatal infantile hypertonic myofibrillar myopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatal infantile hypertonic myofibrillar myopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fatal infantile hypertonic myofibrillar myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Fatal infantile hypertonic myofibrillar myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myofibrillar myopathy\Fatal infantile hypertonic myofibrillar myopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Fatal infantile hypertonic myofibrillar myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Fatal infantile hypertonic myofibrillar myopathy

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756544011	Fatal infantile hypertonic myofibrillar myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756545012	Fatal infantile hypertonic myofibrillar myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3756546013	A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23.	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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