70694009: Wolfram syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\Wolfram syndrome (disorder)
• \Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Wolfram syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Wolfram syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Wolfram syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Decreased hearing\Wolfram syndrome (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Functional finding\Decline in functional status (finding)\Decreased hearing\Wolfram syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Wolfram syndrome (disorder)
• \Functional finding\Hearing finding\Decreased hearing\Wolfram syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Wolfram syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Wolfram syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Wolfram syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Wolfram syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Wolfram syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Diabetes mellitus\Diabetes mellitus type 1 (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Wolfram syndrome (disorder)
• \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\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Wolfram syndrome (disorder)
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Diabetes mellitus type 1 (disorder)\Wolfram syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
117424010	Marquardt-Loriaux syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
117425011	DIDMOAD syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233307015	Wolfram syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247886017	Wolfram syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247887014	DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247900012	A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
117422014	Diabetes mellitus AND insipidus with optic atrophy AND deafness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
117424010	Marquardt-Loriaux syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
117425011	DIDMOAD syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
810777014	Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233305011	DIDMOAD - Diabetes insipidus,diabetes mellitus, optic atrophy and deafness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233305011	DIDMOAD - Diabetes insipidus,diabetes mellitus, optic atrophy and deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233306012	Diabetes insipidus,diabetes mellitus, optic atrophy and deafness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233307015	Wolfram syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233307015	Wolfram syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233307015	Wolfram syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233308013	Diabetes insipidus,diabetes mellitus, optic atrophy and deafness (disorder)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3028935019	Diabetes insipidus, diabetes mellitus, optic atrophy and deafness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3028935019	Diabetes insipidus, diabetes mellitus, optic atrophy and deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3028979016	DIDMOAD - Diabetes insipidus, diabetes mellitus, optic atrophy and deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247886017	Wolfram syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247887014	DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247900012	A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
647431000274118	WFS - Wolfram-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3407991001000118	Wolfram-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
108111000077113	diabète sucré et diabète insipide avec atrophie optique et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
108111000077113	diabète sucré et diabète insipide avec atrophie optique et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
647431000274118	WFS - Wolfram-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3407991001000118	Wolfram-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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