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Terminology chevron_right Concepts chevron_right 70694009

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Component

70694009

The component that hold information about this concept.

Fully Specified Name (FSN)

Diabetes mellitus and insipidus with optic atrophy and deafness (disorder)

Shortest Term

Wolfram syndrome

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 mellitus and insipidus with optic atrophy and deafness (disorder)

SCTID: 70694009, Primitive, Active

70694009|Diabetes mellitus and insipidus with optic atrophy and deafness (disorder)|

en Didmoad (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome
en Wolfram syndrome (disorder)
en Wolfram syndrome
en Didmoad syndrome
en Marquardt-loriaux syndrome

Expression

70694009 |Diabetes mellitus and insipidus with optic atrophy and deafness (disorder)|
 <<< 103276001 |Decreased hearing (finding)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
15632891000119109 |Optic atrophy of bilateral eyes (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
60700002 |Sensorineural hearing loss (disorder)| + 
312942003 |Inherited optic neuropathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| + 
46635009 |Diabetes mellitus type 1 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 13331008 |Atrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 724379002 |Structure of left optic nerve (body structure)| }
        { 363698007 |Finding site (attribute)| = 113331007 |Structure of endocrine system (body structure)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 13331008 |Atrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 724380004 |Structure of right optic nerve (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3028935019 - Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (en) View
3028935019	en	Synonym (core metadata concept)	Diabetes insipidus, diabetes mellitus, optic atrophy and deafness	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
117422014 - Diabetes mellitus AND insipidus with optic atrophy AND deafness (en) View
117422014	en	Synonym (core metadata concept)	Diabetes mellitus AND insipidus with optic atrophy AND deafness	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
810777014 - Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) (en) View
810777014	en	Fully specified name (core metadata concept)	Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
3028979016 - DIDMOAD - Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (en) View
3028979016	en	Synonym (core metadata concept)	DIDMOAD - Diabetes insipidus, diabetes mellitus, optic atrophy and deafness	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5247887014 - DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome (en) View
5247887014	en	Synonym (core metadata concept)	DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5247886017 - Wolfram syndrome (disorder) (en) View
5247886017	en	Fully specified name (core metadata concept)	Wolfram syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
1233307015 - Wolfram syndrome (en) View
1233307015	en	Synonym (core metadata concept)	Wolfram syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
1233306012 - Diabetes insipidus,diabetes mellitus, optic atrophy and deafness (en) View
1233306012	en	Synonym (core metadata concept)	Diabetes insipidus,diabetes mellitus, optic atrophy and deafness	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1233305011 - DIDMOAD - Diabetes insipidus,diabetes mellitus, optic atrophy and deafness (en) View
1233305011	en	Synonym (core metadata concept)	DIDMOAD - Diabetes insipidus,diabetes mellitus, optic atrophy and deafness	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1233308013 - Diabetes insipidus,diabetes mellitus, optic atrophy and deafness (disorder) (en) View
1233308013	en	Synonym (core metadata concept)	Diabetes insipidus,diabetes mellitus, optic atrophy and deafness (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
117423016 - Diabetes mellitus and insipidus with optic atrophy and deafness (en) View
117423016	en	Synonym (core metadata concept)	Diabetes mellitus and insipidus with optic atrophy and deafness	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
117425011 - DIDMOAD syndrome (en) View
117425011	en	Synonym (core metadata concept)	DIDMOAD syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
117424010 - Marquardt-Loriaux syndrome (en) View
117424010	en	Synonym (core metadata concept)	Marquardt-Loriaux syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12252762027) - 70694009 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374362020) - 70694009 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (263018020) - 70694009 -> 15771004 (116680003) View
116680003 \|Is a (attribute)\|	15771004 \|Diabetes insipidus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (850028021) - 70694009 -> 37512009 (363698007) View
363698007 \|Finding site (attribute)\|	37512009 \|Neurohypophysis structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4601663029) - 70694009 -> 5969009 (116680003) View
116680003 \|Is a (attribute)\|	5969009 \|Diabetes mellitus associated with genetic syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11576081021) - 70694009 -> 782964007 (47429007) View
47429007 \|Associated with (attribute)\|	782964007 \|Genetic disease (disorder)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13951457020) - 70694009 -> 87536007 (116680003) View
116680003 \|Is a (attribute)\|	87536007 \|Central nervous system complication (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15681542022) - 70694009 -> 103276001 (116680003) View
116680003 \|Is a (attribute)\|	103276001 \|Decreased hearing (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681543028) - 70694009 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681586028) - 70694009 -> 46635009 (116680003) View
116680003 \|Is a (attribute)\|	46635009 \|Diabetes mellitus type 1 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681587021) - 70694009 -> 113331007 (363698007) View
363698007 \|Finding site (attribute)\|	113331007 \|Structure of endocrine system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12876678029) - 70694009 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (263019028) - 70694009 -> 76976005 (116680003) View
116680003 \|Is a (attribute)\|	76976005 \|Optic atrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3523396025) - 70694009 -> 18234004 (363698007) View
363698007 \|Finding site (attribute)\|	18234004 \|Optic nerve structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12252759025) - 70694009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252760024) - 70694009 -> 15632891000119109 (116680003) View
116680003 \|Is a (attribute)\|	15632891000119109 \|Optic atrophy of bilateral eyes (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252761023) - 70694009 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252763021) - 70694009 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252764026) - 70694009 -> 312942003 (116680003) View
116680003 \|Is a (attribute)\|	312942003 \|Inherited optic neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252765025) - 70694009 -> 724379002 (363698007) View
363698007 \|Finding site (attribute)\|	724379002 \|Structure of left optic nerve (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252766029) - 70694009 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252767022) - 70694009 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252768028) - 70694009 -> 13331008 (116676008) View
116676008 \|Associated morphology (attribute)\|	13331008 \|Atrophy (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252769020) - 70694009 -> 724380004 (363698007) View
363698007 \|Finding site (attribute)\|	724380004 \|Structure of right optic nerve (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4601664024) - 70694009 -> 290028006 (47429007) View
47429007 \|Associated with (attribute)\|	290028006 \|Genetic syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1680970029) - 70694009 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (263021022) - 70694009 -> 73211009 (116680003) View
116680003 \|Is a (attribute)\|	73211009 \|Diabetes mellitus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (850027027) - 70694009 -> 78696007 (363698007) View
363698007 \|Finding site (attribute)\|	78696007 \|Endocrine pancreatic structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3344012029) - 70694009 -> 86762007 (363698007) View
363698007 \|Finding site (attribute)\|	86762007 \|Structure of digestive system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (850025024) - 70694009 -> 13331008 (116676008) View
116676008 \|Associated morphology (attribute)\|	13331008 \|Atrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (850030023) - 70694009 -> 18234004 (363698007) View
363698007 \|Finding site (attribute)\|	18234004 \|Optic nerve structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3523397023) - 70694009 -> 13331008 (116676008) View
116676008 \|Associated morphology (attribute)\|	13331008 \|Atrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (263020023) - 70694009 -> 312566002 (116680003) View
116680003 \|Is a (attribute)\|	312566002 \|Multisystem disorder c-d (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (850026020) - 70694009 -> 47563007 (363714003) View
363714003 \|Interprets (attribute)\|	47563007 \|Nutritional deficiency (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (850029029) - 70694009 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
106018006 View
106018006	Hereditary degenerative disease of central nervous system (disorder)	Hereditary degenerative disease of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
312942003 View
312942003	Inherited optic neuropathy (disorder)	Inherited optic neuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
15632891000119109 View
15632891000119109	Optic atrophy of bilateral eyes (disorder)	Optic atrophy of both eyes	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
103276001 View
103276001	Decreased hearing (finding)	Nghe kém	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
46635009 View
46635009	Diabetes mellitus type 1 (disorder)	Iddm	900000000000074008 \|Necessary but not sufficient concept 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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
1285518004 View
1285518004	Wolfram syndrome type 1 (disorder)	Wolfram syndrome type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1285519007 View
1285519007	Wolfram syndrome type 2 (disorder)	Wolfram syndrome type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (03abc7cb-6e54-5722-bf1c-28f534dc369c) 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)\|
ExtendedMap object (3f32492d-a674-5d54-8781-385e42007058) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E34.8	TRUE	ALWAYS E34.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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 (527e15bc-9d3c-53d1-b034-d0fa9ca00978) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H47.2	TRUE	ALWAYS H47.2	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 (85c42d79-1334-5f73-be00-5d865cb365a6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E13.8	TRUE	ALWAYS E13.8	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 (dfc29379-8386-51c3-95fb-9edd5e375263) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E23.2	TRUE	ALWAYS E23.2	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 (f91890cb-7614-5329-bc8e-9100d7055e61) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E14.6	TRUE	ALWAYS E14.6 \| POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE	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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