1222704008: Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Poor muscle tone\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral axonal neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Congenital anomaly of peripheral nerve\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral axonal neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Congenital anomaly of central nervous system (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Axonal neuropathy\Peripheral axonal neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Finding of neonate\Neonatal disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Muscle finding (finding)\Finding of muscle tone (finding)\Poor muscle tone\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Muscle finding (finding)\Finding of muscle tone (finding)\Decreased muscle tone (finding)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Musculoskeletal finding (finding)\Poor muscle tone\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Peripheral axonal neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Polyneuropathy\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Congenital anomaly of peripheral nerve\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Axonal neuropathy\Peripheral axonal neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Peripheral axonal neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Polyneuropathy\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Congenital anomaly of peripheral nerve\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Peripheral axonal neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral axonal neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\polyneuropathie congénitale\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048588011	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048589015	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400020011	A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400021010	A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterised by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibres without signs of demyelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048588011	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048589015	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048590012	A rare genetic autosomal recessive axonal hereditary motor and sensory neuropathy disease with characteristics of prenatal onset of a severe sensorimotor axonal polyneuropathy reflected by reduced fetal movement and polyhydramnios. The disease manifests at birth with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness and absent deep tendon reflexes in the absence of contractures leading to death before 8 months of age. Neuropathological findings show severe loss of large and medium sized myelinated fibers without signs of demyelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048591011	A rare genetic autosomal recessive axonal hereditary motor and sensory neuropathy disease with characteristics of prenatal onset of a severe sensorimotor axonal polyneuropathy reflected by reduced fetal movement and polyhydramnios. The disease manifests at birth with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness and absent deep tendon reflexes in the absence of contractures leading to death before 8 months of age. Neuropathological findings show severe loss of large and medium sized myelinated fibres without signs of demyelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400020011	A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400021010	A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterised by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibres without signs of demyelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3395821001000114	Autosomal-rezessive letale neonatale axonale sensorimotorische Polyneuropathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395821001000114	Autosomal-rezessive letale neonatale axonale sensorimotorische Polyneuropathie	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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