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Terminology chevron_right Concepts chevron_right 237619009

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Component

237619009

The component that hold information about this concept.

Fully Specified Name (FSN)

Diabetes-deafness syndrome maternally transmitted (disorder)

Shortest Term

Mitochondrial diabetes

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Diabetes-deafness syndrome maternally transmitted (disorder)

SCTID: 237619009, Primitive, Active

237619009|Diabetes-deafness syndrome maternally transmitted (disorder)|

en Maternally inherited diabetes and deafness
en Maternally inherited diabetes and deafness (disorder)
en Maternally-inherited diabetes and hearing loss
en Midd - maternally inherited diabetes and deafness
en Mitochondrial diabetes
en Diabetes-deafness syndrome maternally transmitted
en Ballinger-wallace syndrome

Expression

237619009 |Diabetes-deafness syndrome maternally transmitted (disorder)|
 <<< 363104002 |Hereditary disorder of endocrine system (disorder)| + 
5969009 |Diabetes mellitus associated with genetic syndrome (disorder)| + 
240096000 |Mitochondrial cytopathy (disorder)| + 
60700002 |Sensorineural hearing loss (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| + 
1162975000 |Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)| : 
        { 42752001 |Due to (attribute)| = 782964007 |Genetic disease (disorder)| }
        { 363698007 |Finding site (attribute)| = 113331007 |Structure of endocrine system (body structure)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
626374012 - Diabetes-deafness syndrome maternally transmitted (disorder) (en) View
626374012	en	Fully specified name (core metadata concept)	Diabetes-deafness syndrome maternally transmitted (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
5283835010 - Maternally inherited diabetes and deafness (en) View
5283835010	en	Synonym (core metadata concept)	Maternally inherited diabetes and deafness	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5283834014 - Maternally inherited diabetes and deafness (disorder) (en) View
5283834014	en	Fully specified name (core metadata concept)	Maternally inherited diabetes and deafness (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5283837019 - Maternally-inherited diabetes and hearing loss (en) View
5283837019	en	Synonym (core metadata concept)	Maternally-inherited diabetes and hearing loss	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5283836011 - MIDD - maternally inherited diabetes and deafness (en) View
5283836011	en	Synonym (core metadata concept)	MIDD - maternally inherited diabetes and deafness	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5283838012 - Mitochondrial diabetes (en) View
5283838012	en	Synonym (core metadata concept)	Mitochondrial diabetes	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
356118015 - Diabetes-deafness syndrome maternally transmitted (en) View
356118015	en	Synonym (core metadata concept)	Diabetes-deafness syndrome maternally transmitted	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
356117013 - Ballinger-Wallace syndrome (en) View
356117013	en	Synonym (core metadata concept)	Ballinger-Wallace syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11570110023) - 237619009 -> 782964007 (47429007) View
47429007 \|Associated with (attribute)\|	782964007 \|Genetic disease (disorder)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16409740028) - 237619009 -> 782964007 (42752001) View
42752001 \|Due to (attribute)\|	782964007 \|Genetic disease (disorder)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12348814029) - 237619009 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374355027) - 237619009 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806496022) - 237619009 -> 1162975000 (116680003) View
116680003 \|Is a (attribute)\|	1162975000 \|Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12876688028) - 237619009 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12348815028) - 237619009 -> 240096000 (116680003) View
116680003 \|Is a (attribute)\|	240096000 \|Mitochondrial cytopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12348816027) - 237619009 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12348817020) - 237619009 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12348818026) - 237619009 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2713109020) - 237619009 -> 290028006 (47429007) View
47429007 \|Associated with (attribute)\|	290028006 \|Genetic syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4598349022) - 237619009 -> 113331007 (363698007) View
363698007 \|Finding site (attribute)\|	113331007 \|Structure of endocrine system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526251022) - 237619009 -> 78696007 (363698007) View
363698007 \|Finding site (attribute)\|	78696007 \|Endocrine pancreatic structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3294134025) - 237619009 -> 86762007 (363698007) View
363698007 \|Finding site (attribute)\|	86762007 \|Structure of digestive system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526252026) - 237619009 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53170022) - 237619009 -> 5969009 (116680003) View
116680003 \|Is a (attribute)\|	5969009 \|Diabetes mellitus associated with genetic syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
788953003 View
788953003	Hereditary hearing loss (disorder)	Hereditary hearing loss	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1162975000 View
1162975000	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Maternally inherited mitochondrial disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
5969009 View
5969009	Diabetes mellitus associated with genetic syndrome (disorder)	Genetic syndromes of diabetes mellitus	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
60700002 View
60700002	Sensorineural hearing loss (disorder)	Mất thính giác	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240096000 View
240096000	Mitochondrial cytopathy (disorder)	Mitochondrial disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (cc98e04d-2bda-523b-ac98-48dbe435b1fd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E13.9	TRUE	ALWAYS E13.9	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (d31aaade-5dd1-5d85-a341-a47f409aec28) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H91.9	TRUE	ALWAYS H91.9	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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