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60436000: Axon structure (cell structure)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
100422019 Axon en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
498737018 Axon structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1203934013 Axon structure (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Axon structure Is a Subcellular structure true Inferred relationship Some
Axon structure Is a Central nervous system tract structure true Inferred relationship Some
Axon structure partie de Neuron (cell) false Additional relationship Some
Axon structure partie de Entire central nervous system tract false Additional relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Axon hillock Is a True Axon structure Inferred relationship Some
Entire axon Is a True Axon structure Inferred relationship Some
Peripheral nerve axis cylinder Is a True Axon structure Inferred relationship Some
Central nervous system axis cylinder Is a True Axon structure Inferred relationship Some
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases. Finding site False Axon structure Inferred relationship Some
Dying back phenomenon Finding site False Axon structure Inferred relationship Some 1
Dying back phenomenon Finding site False Axon structure Inferred relationship Some 1
Ranvier's node Is a True Axon structure Inferred relationship Some
Axonal neuropathy Finding site True Axon structure Inferred relationship Some 2
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases. Finding site True Axon structure Inferred relationship Some 2
Axonal sensorimotor neuropathy Finding site True Axon structure Inferred relationship Some 2
A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996. Finding site True Axon structure Inferred relationship Some 1
Peripheral axonal neuropathy Finding site True Axon structure Inferred relationship Some 2
Autosomal recessive axonal neuropathy with neuromyotonia Finding site True Axon structure Inferred relationship Some 2
A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy. Finding site True Axon structure Inferred relationship Some 3
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. Finding site True Axon structure Inferred relationship Some 5
A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. Finding site True Axon structure Inferred relationship Some 3
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. Finding site True Axon structure Inferred relationship Some 6
Atrophy of axon of peripheral nerve structure (disorder) Finding site True Axon structure Inferred relationship Some 1

Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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