1285519007: Wolfram-syndroom type 2 (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\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\Finding of sensory function\Disorder of sensory function (disorder)\Wolfram syndrome\Wolfram syndrome type 2
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Wolfram syndrome\Wolfram syndrome type 2
\Functional finding\Finding of sensory function\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)\Disorder of sensory function (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 (disorder)\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

14435671000146119 Wolfram-syndroom type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14435681000146117 DIDMOAD-syndroom type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14435691000146115 syndroom van Wolfram type 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14435701000146115 Wolfram-syndroom type 2 (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Wolfram syndrome type 2	Is a	Wolfram syndrome	true	Inferred relationship	Some
Wolfram syndrome type 2	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	5
Wolfram syndrome type 2	Interprets	Hearing	true	Inferred relationship	Some	3
Wolfram syndrome type 2	Has interpretation	Decreased	true	Inferred relationship	Some	3
Wolfram syndrome type 2	Finding site	Structure of left optic nerve (body structure)	true	Inferred relationship	Some	1
Wolfram syndrome type 2	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Wolfram syndrome type 2	Finding site	Structure of right optic nerve (body structure)	true	Inferred relationship	Some	2
Wolfram syndrome type 2	Associated morphology	Atrophy	true	Inferred relationship	Some	2
Wolfram syndrome type 2	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets