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1260129000: Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Dec 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5159283017 Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5159284011 ANOAC (axonal neuropathy, optic atrophy, cognitive deficit) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5159285012 Axonal neuropathy, optic atrophy, cognitive deficit syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
5159286013 Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a Chronic nervous system disorder true Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a Hereditary optic atrophy true Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a Hereditary motor and sensory neuropathy true Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier 5
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a Axonal neuropathy true Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 7
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier 1
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Finding site Optic nerve structure true Inferred relationship Existential restriction modifier 1
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Associated morphology Primary atrophy true Inferred relationship Existential restriction modifier 1
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier 2
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier 2
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier 6
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Finding site Axon structure true Inferred relationship Existential restriction modifier 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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