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\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.

\Disorder of visual pathways\Disorder of right visual pathway (disorder)\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disorder of visual pathways\Disorder of left visual pathway (disorder)\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Ear and auditory finding\Hearing finding\Decreased hearing\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.

\Eye / vision finding\Visual system disorder (disorder)\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.

\Disorder of visual pathways\Disorder of right visual pathway (disorder)\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disorder of visual pathways\Disorder of left visual pathway (disorder)\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.

\Functional finding\Decline in functional status (finding)\Decreased hearing\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Functional finding\Hearing finding\Decreased hearing\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Type 1 diabetes mellitus\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Visual system disorder (disorder)\Hereditary disorder of the visual system\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of visual pathways\Disorder of right visual pathway (disorder)\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of visual pathways\Disorder of left visual pathway (disorder)\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Visual system disorder (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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Visual system disorder (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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of right visual pathway (disorder)\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of left visual pathway (disorder)\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\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)\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Type 1 diabetes mellitus\A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.

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

5449641013 A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5449642018 A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. en Definition Active Entire term case sensitive (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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Diabetes insipidus	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Optic atrophy	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Multisystem disorder C-D	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Diabetes mellitus	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Associated morphology	Atrophy	false	Inferred relationship	Some	1
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Neurohypophysis structure	false	Inferred relationship	Some	2
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Multisystem disorder	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Associated morphology	Atrophy	true	Inferred relationship	Some	1
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Diabetes mellitus associated with genetic syndrome	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Associated with	Genetic syndrome	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Associated with	Genetic disease	false	Inferred relationship	Some	3
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Optic atrophy of bilateral eyes (disorder)	true	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Structure of left optic nerve (body structure)	true	Inferred relationship	Some	1
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	4
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Interprets	Hearing	true	Inferred relationship	Some	5
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Associated morphology	Atrophy	true	Inferred relationship	Some	6
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Structure of right optic nerve (body structure)	true	Inferred relationship	Some	6
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Central nervous system complication	false	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Decreased hearing	true	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Has interpretation	Decreased	true	Inferred relationship	Some	5
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	Type 1 diabetes mellitus	true	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive.	Is a	True	A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Inferred relationship	Some
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.	Is a	True	A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
5449641013	A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5449642018	A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	en	Definition	Active	Entire term case sensitive (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
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