1255271005: Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of coordination\Ataxia\Hereditary ataxia (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Ear and auditory finding\Hearing finding\Decreased hearing\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Functional finding\Decline in functional status (finding)\Decreased hearing\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Functional finding\Hearing finding\Decreased hearing\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Diabetes mellitus\Diabetes mellitus type 1 (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Diabetes mellitus type 1 (disorder)\Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5145798016	Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145799012	Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145800011	Combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145801010	Combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400368011	A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400369015	A rare genetic disease characterised by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalised cerebral atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5145798016	Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145799012	Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145800011	Combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145801010	Combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145802015	A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5145803013	A rare genetic disease characterised by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalised cerebral atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400368011	A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400369015	A rare genetic disease characterised by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalised cerebral atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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