1285519007: Wolfram syndrome type 2 (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\Wolfram syndrome type 2
• \Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Wolfram syndrome\Wolfram syndrome type 2
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Wolfram syndrome\Wolfram syndrome type 2
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Wolfram syndrome\Wolfram syndrome type 2
• \Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Wolfram syndrome\Wolfram syndrome type 2
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Wolfram syndrome\Wolfram syndrome type 2
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Wolfram syndrome\Wolfram syndrome type 2
• \Functional finding\Hearing finding (finding)\Decreased hearing (finding)\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Wolfram syndrome\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Type 1 diabetes mellitus\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Wolfram syndrome\Wolfram syndrome type 2
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Wolfram syndrome\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \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\Wolfram syndrome type 2
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Type 1 diabetes mellitus\Wolfram syndrome\Wolfram syndrome type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5247896014	Wolfram syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247897017	Wolfram syndrome type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247898010	Wolfram syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247899019	WFS2 - Wolfram syndrome-2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247903014	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. Type 2 patients present early with optic atrophy, diabetes mellitus, deafness and decreased lifespan but without diabetes insipidus. Caused by homozygous mutation in the CISD2 gene on chromosome 4q24. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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