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Terminology chevron_right Concepts chevron_right 702441001

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Component

702441001

The component that hold information about this concept.

Fully Specified Name (FSN)

Fatal x-linked ataxia with deafness and loss of vision (disorder)

Shortest Term

Arts 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

Fatal x-linked ataxia with deafness and loss of vision (disorder)

SCTID: 702441001, Primitive, Active

702441001|Fatal x-linked ataxia with deafness and loss of vision (disorder)|

en Fatal x-linked ataxia with deafness and loss of vision
en Fatal x-linked ataxia with deafness and loss of vision (disorder)
en Lethal ataxia-deafness-optic atrophy
en Arts syndrome

Expression

702441001 |Fatal x-linked ataxia with deafness and loss of vision (disorder)|
 <<< 788953003 |Hereditary hearing loss (disorder)| + 
26360005 |Hereditary optic atrophy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
763597000 |Hereditary ataxia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 68616007 |Primary atrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 18234004 |Optic nerve structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2995639010 - Fatal x-linked ataxia with deafness and loss of vision (en) View
2995639010	en	Synonym (core metadata concept)	Fatal x-linked ataxia with deafness and loss of vision	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
3776947010 - Fatal X-linked ataxia with deafness and loss of vision (en) View
3776947010	en	Synonym (core metadata concept)	Fatal X-linked ataxia with deafness and loss of vision	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2995319018 - Fatal x-linked ataxia with deafness and loss of vision (disorder) (en) View
2995319018	en	Fully specified name (core metadata concept)	Fatal x-linked ataxia with deafness and loss of vision (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3776946018 - Fatal X-linked ataxia with deafness and loss of vision (disorder) (en) View
3776946018	en	Fully specified name (core metadata concept)	Fatal X-linked ataxia with deafness and loss of vision (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
2995163018 - Lethal ataxia-deafness-optic atrophy (en) View
2995163018	en	Synonym (core metadata concept)	Lethal ataxia-deafness-optic atrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2995374018 - Arts syndrome (en) View
2995374018	en	Synonym (core metadata concept)	Arts syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11567059022) - 702441001 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11567062020) - 702441001 -> 15188001 (116680003) View
116680003 \|Is a (attribute)\|	15188001 \|Hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374376021) - 702441001 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11567056026) - 702441001 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316586023) - 702441001 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094600021) - 702441001 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094601020) - 702441001 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095965022) - 702441001 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095966023) - 702441001 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968682024) - 702441001 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13908835024) - 702441001 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069819024) - 702441001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11567054028) - 702441001 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11567055027) - 702441001 -> 18234004 (363698007) View
363698007 \|Finding site (attribute)\|	18234004 \|Optic nerve structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11567058025) - 702441001 -> 68616007 (116676008) View
116676008 \|Associated morphology (attribute)\|	68616007 \|Primary atrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11567060028) - 702441001 -> 26360005 (116680003) View
116680003 \|Is a (attribute)\|	26360005 \|Hereditary optic atrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577768025) - 702441001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577769022) - 702441001 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577770023) - 702441001 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968681028) - 702441001 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	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
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	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

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 (519616b4-ec14-5dc3-af4e-47b1ae363cdc) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E79.8	TRUE	ALWAYS E79.8 \| 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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