1300194008: Mitchell-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral demyelinating neuropathy\Mitchell syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral demyelinating neuropathy\Mitchell syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Mitchell syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Mitchell syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Mitchell syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Mitchell syndrome

\Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Mitchell syndrome
\Functional finding\Finding of sensory function\Disorder of sensory function (disorder)\Mitchell syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Mitchell syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Decreased hearing (finding)\Mitchell syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Mitchell syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Mitchell syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Mitchell syndrome
\Disease\Degenerative disorder\Peripheral demyelinating neuropathy\Mitchell syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Mitchell syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Mitchell syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Mitchell syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Mitchell syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\Mitchell syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Peripheral demyelinating neuropathy\Mitchell syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Mitchell syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Mitchell syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral demyelinating neuropathy\Mitchell syndrome
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Mitchell syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Mitchell syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral demyelinating neuropathy\Mitchell syndrome

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

14892451000146116 syndroom van Mitchell nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14892461000146118 Mitchell-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14892471000146112 Mitchell-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

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
Mitchell syndrome	Is a	Disorder of sensory function (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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
14892451000146116	syndroom van Mitchell	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14892461000146118	Mitchell-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14892471000146112	Mitchell-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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