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Terminology chevron_right Concepts chevron_right 734022008

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Component

734022008

The component that hold information about this concept.

Fully Specified Name (FSN)

Wolfram-like syndrome (disorder)

Shortest Term

Wolfram-like 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

Wolfram-like syndrome (disorder)

SCTID: 734022008, Primitive, Active

734022008|Wolfram-like syndrome (disorder)|

en Wolfram-like syndrome
en Wolfram-like syndrome (disorder)

Expression

734022008 |Wolfram-like syndrome (disorder)|
 <<< 5969009 |Diabetes mellitus associated with genetic syndrome (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
26360005 |Hereditary optic atrophy (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
722990003 |Congenital atrophy of optic nerve (disorder)| + 
25906001 |Disorder of ear (disorder)| + 
95827002 |Congenital hearing disorder (disorder)| + 
87536007 |Central nervous system complication (disorder)| + 
788953003 |Hereditary hearing loss (disorder)|
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 42752001 |Due to (attribute)| = 782964007 |Genetic disease (disorder)| }
        { 363698007 |Finding site (attribute)| = 113331007 |Structure of endocrine system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 117590005 |Ear structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 68616007 |Primary atrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 18234004 |Optic nerve structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3481937011 - Wolfram-like syndrome (en) View
3481937011	en	Synonym (core metadata concept)	Wolfram-like syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3481936019 - Wolfram-like syndrome (disorder) (en) View
3481936019	en	Fully specified name (core metadata concept)	Wolfram-like syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (7114842026) - 734022008 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374473028) - 734022008 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13951619027) - 734022008 -> 87536007 (116680003) View
116680003 \|Is a (attribute)\|	87536007 \|Central nervous system complication (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12093046027) - 734022008 -> 25906001 (116680003) View
116680003 \|Is a (attribute)\|	25906001 \|Disorder of ear (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12093047020) - 734022008 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12093048026) - 734022008 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114837023) - 734022008 -> 290028006 (42752001) View
42752001 \|Due to (attribute)\|	290028006 \|Genetic syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11573278027) - 734022008 -> 782964007 (42752001) View
42752001 \|Due to (attribute)\|	782964007 \|Genetic disease (disorder)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114838029) - 734022008 -> 5969009 (116680003) View
116680003 \|Is a (attribute)\|	5969009 \|Diabetes mellitus associated with genetic syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114839021) - 734022008 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114840023) - 734022008 -> 26360005 (116680003) View
116680003 \|Is a (attribute)\|	26360005 \|Hereditary optic atrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114841022) - 734022008 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114843020) - 734022008 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114844025) - 734022008 -> 722990003 (116680003) View
116680003 \|Is a (attribute)\|	722990003 \|Congenital atrophy of optic nerve (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114846028) - 734022008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114848027) - 734022008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114849024) - 734022008 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114850024) - 734022008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7116007027) - 734022008 -> 113331007 (363698007) View
363698007 \|Finding site (attribute)\|	113331007 \|Structure of endocrine system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7116008021) - 734022008 -> 68616007 (116676008) View
116676008 \|Associated morphology (attribute)\|	68616007 \|Primary atrophy (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7116009029) - 734022008 -> 18234004 (363698007) View
363698007 \|Finding site (attribute)\|	18234004 \|Optic nerve structure (body structure)\|	7	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
87536007 View
87536007	Central nervous system complication (disorder)	Central nervous system complication	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
722990003 View
722990003	Congenital atrophy of optic nerve (disorder)	Congenital optic atrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
95827002 View
95827002	Congenital hearing disorder (disorder)	Congenital hearing disorder	900000000000073002 \|Sufficiently defined by necessary conditions 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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
25906001 View
25906001	Disorder of ear (disorder)	Disorder of ear	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
26360005 View
26360005	Hereditary optic atrophy (disorder)	Hereditary optic atrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
232333009 View
232333009	Hearing loss associated with syndrome (disorder)	Syndromal deafness	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 (7c434a84-72d3-5b0b-bb59-beb127b9b2cd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E13.8	TRUE	ALWAYS E13.8 \| 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)\|

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