237619009: maternally inherited diabetes and deafness (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Maternally inherited diabetes and deafness (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Maternally inherited diabetes and deafness (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Maternally inherited diabetes and deafness (disorder)

\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Maternally inherited diabetes and deafness (disorder)

\Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)\Maternally inherited diabetes and deafness (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Maternally inherited diabetes and deafness (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Maternally inherited diabetes and deafness (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Maternally inherited diabetes and deafness (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Maternally inherited diabetes and deafness (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Maternally inherited diabetes and deafness (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome\Maternally inherited diabetes and deafness (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Maternally inherited diabetes and deafness (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Maternally inherited diabetes and deafness (disorder)
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Maternally inherited diabetes and deafness (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism (disorder)\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome\Maternally inherited diabetes and deafness (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maternally inherited diabetes and deafness (disorder)	Is a	Diabetes mellitus associated with genetic syndrome	true	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Associated with	Genetic syndrome	false	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	2
Maternally inherited diabetes and deafness (disorder)	Associated with	Genetic disease	true	Inferred relationship	Some	1
Maternally inherited diabetes and deafness (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Maternally inherited diabetes and deafness (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	4
Maternally inherited diabetes and deafness (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Is a	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	true	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complicated diabetes-deafness syndrome maternally inherited (disorder)	Is a	True	Maternally inherited diabetes and deafness (disorder)	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
356117013	Ballinger-Wallace syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356118015	Diabetes-deafness syndrome maternally transmitted	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5283834014	Maternally inherited diabetes and deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5283835010	Maternally inherited diabetes and deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5283836011	MIDD - maternally inherited diabetes and deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283837019	Maternally-inherited diabetes and hearing loss	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5283838012	Mitochondrial diabetes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
374221000146115	maternally inherited diabetes and deafness	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
374231000146118	maternally inherited diabetes and deafness (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10782981000146118	MIDD-type diabetes	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10782991000146116	Maternally inherited diabetes and deafness; erfelijke vorm van diabetes die via de moeder wordt overgeërfd en waarbij iemand naast diabetes ook last heeft van gehoorverlies; er is sprake van een verandering in het erfelijk materiaal van de mitochondriën, de energiefabriekjes van een cel.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)