70694009: Wolfram-syndroom (aandoening)

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

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
117422014	Diabetes mellitus AND insipidus with optic atrophy AND deafness	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
117423016	Diabetes mellitus and insipidus with optic atrophy and deafness	en	Synonym (core metadata concept)	Inactive	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	Inactive	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)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233306012	Diabetes insipidus,diabetes mellitus, optic atrophy and deafness	en	Synonym (core metadata concept)	Inactive	Only initial character 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)	Inactive	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)	Inactive	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)	Inactive	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
101101000146118	syndroom van Wolfram	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
940341000146117	syndroom van Wolfram (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2129861000146116	Wolfram-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2129871000146110	DIDMOAD-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10673021000146112	Wolfram-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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
2129881000146112	Syndroom gekenmerkt door diabetes insipidus, diabetes mellitus, opticusatrofie en doofheid.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7551691000146116	Dit is een aangeboren aandoening met als belangrijkste symptomen diabetes insipidus, diabetes mellitus, optische atrofie en doofheid.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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