764812008: Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...
• \Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Muscle finding\Myopathy\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655188016	Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3655189012	Autosomal recessive myogenic arthrogryposis multiplex congenita	en	Synonym	Active	Case insensitive	SNOMED CT core
3655190015	SYNE1-related arthrogryposis multiplex congenita	en	Synonym	Active	Case sensitive	SNOMED CT core
3655191016	SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita	en	Synonym	Active	Case sensitive	SNOMED CT core
3654860019	A rare inherited neuromuscular disease with prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning. This results in joint abnormalities that may involve both lower and upper extremities and is usually symmetric. Also associated with severe hypotonia at birth, bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement and progressive disease course with loss of ambulation after the first decade of life.	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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