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1300194008: Mitchell syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5298526010 Mitchell syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5298527018 Mitchell syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5298528011 A rare genetic neurological disorder with characteristics of childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in an increasing and decreasing course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitchell syndrome Is a Decreased hearing (finding) true Inferred relationship Some
Mitchell syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Mitchell syndrome Is a Chronic nervous system disorder (disorder) true Inferred relationship Some
Mitchell syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Mitchell syndrome Is a Peripheral demyelinating neuropathy true Inferred relationship Some
Mitchell syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Mitchell syndrome Is a Mixed sensory-motor polyneuropathy true Inferred relationship Some
Mitchell syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Mitchell syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Some 4
Mitchell syndrome Interprets Hearing true Inferred relationship Some 2
Mitchell syndrome Has interpretation Decreased true Inferred relationship Some 2
Mitchell syndrome Finding site Peripheral nerve structure true Inferred relationship Some 1
Mitchell syndrome Associated morphology Demyelination true Inferred relationship Some 1
Mitchell syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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