1172689007: Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Joint injury (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Joint injury (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of joint region\Arthropathy\Joint injury (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of nervous system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Injury of nervous system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Joint injury (disorder)\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4635376013	Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635377016	Prenatal-onset spinal muscular atrophy with congenital bone fractures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399386017	A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399387014	A rare genetic motor neuron disease characterised by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fibre-size variation and grouping of larger type I fibres. The disease is usually fatal in infancy due to respiratory failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635376013	Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635377016	Prenatal-onset spinal muscular atrophy with congenital bone fractures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635378014	A rare genetic motor neuron disease with characteristics of decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita) and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635379018	A rare genetic motor neuron disease with characteristics of decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita) and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fibre-size variation and grouping of larger type I fibres. The disease is usually fatal in infancy due to respiratory failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399386017	A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399387014	A rare genetic motor neuron disease characterised by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fibre-size variation and grouping of larger type I fibres. The disease is usually fatal in infancy due to respiratory failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3452011001000115	Pränatale spinale Muskelatrophie mit kongenitalen Knochenbrüchen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487131000241115	amyotrophie spinale à début prénatal avec fractures congénitales des os	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487141000241113	amyotrophie spinale à début anténatal avec fractures osseuses congénitales	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487131000241115	amyotrophie spinale à début prénatal avec fractures congénitales des os	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487141000241113	amyotrophie spinale à début anténatal avec fractures osseuses congénitales	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452011001000115	Pränatale spinale Muskelatrophie mit kongenitalen Knochenbrüchen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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