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

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Poor muscle tone (finding)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\polyneuropathie\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\...
• \Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation à propos du nouveau-né\Neonatal disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation à propos d'un muscle\constatation à propos du tonus musculaire\Poor muscle tone (finding)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation à propos d'un muscle\constatation à propos du tonus musculaire\Decreased muscle tone (finding)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Musculoskeletal finding\Poor muscle tone (finding)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of fetus or newborn (disorder)\Neonatal disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\polyneuropathie\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\anomalie congénitale du système nerveux périphérique\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\polyneuropathie\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\anomalie congénitale du système nerveux périphérique\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\anomalie congénitale du système nerveux périphérique\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Motor polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Sensory polyneuropathy\polyneuropathie sensitivomotrice mixte\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\anomalie congénitale du système nerveux périphérique\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\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
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

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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