1187251009: Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Muscle finding\Myopathy\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4672936010	Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4672937018	Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4672938011	A progressive muscular dystrophy with characteristics of co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies and a dystrophic pattern.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

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