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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
100861016 Axonal neuropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
4589091000241113 neuropathie axonale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4589091000241113 neuropathie axonale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Axonal neuropathy Is a Neuropathy false Inferred relationship Existential restriction modifier (core metadata concept)
Axonal neuropathy Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Axonal neuropathy Is a Neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Axonal neuropathy Is a Disorder of the central nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Axonal neuropathy Finding site Axon structure (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Axonal sensorimotor neuropathy Is a False Axonal neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
Giant axonal neuropathy (disorder) Is a True Axonal neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral axonal neuropathy (disorder) Is a True Axonal neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive axonal neuropathy with neuromyotonia Is a False Axonal neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) Is a True Axonal neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
Congenital axonal neuropathy with encephalopathy Is a True Axonal neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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