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60703000: Axonal neuropathy (disorder)

Status: current, 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
100861016 Axonal neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
799685011 Axonal neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Axonal neuropathy Is a Neuropathy false Inferred relationship Some
Axonal neuropathy Finding site Nerve structure true Inferred relationship Some 1
Axonal neuropathy Is a Neuropathy (disorder) true Inferred relationship Some
Axonal neuropathy Is a Disorder of the central nervous system (disorder) true Inferred relationship Some
Axonal neuropathy Finding site Axon structure true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Axonal sensorimotor neuropathy Is a False Axonal neuropathy 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. Is a True Axonal neuropathy Inferred relationship Some
Peripheral axonal neuropathy Is a True Axonal neuropathy Inferred relationship Some
Autosomal recessive axonal neuropathy with neuromyotonia Is a False Axonal neuropathy Inferred relationship Some
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. Is a True Axonal neuropathy Inferred relationship Some
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. Is a True Axonal neuropathy Inferred relationship Some
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. Is a True Axonal neuropathy Inferred relationship Some

This concept is not in any reference sets

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