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Terminology chevron_right Concepts chevron_right 763344007

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Component

763344007

The component that hold information about this concept.

Fully Specified Name (FSN)

Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)

Shortest Term

Poretti boltshauser 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

Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)

SCTID: 763344007, Primitive, Active

763344007|Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)|

en Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
en Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)
en Poretti boltshauser syndrome

Expression

763344007 |Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| + 
85102008 |Cerebellar ataxia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
193662007 |Oculomotor apraxia (disorder)| + 
253171007 |Congenital malformation of cerebellum (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 363698007 |Finding site (attribute)| = 49549006 |Structure of visual system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
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
3638624010 - Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (en) View
3638624010	en	Synonym (core metadata concept)	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3638626012 - Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder) (en) View
3638626012	en	Fully specified name (core metadata concept)	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3638625011 - Poretti Boltshauser syndrome (en) View
3638625011	en	Synonym (core metadata concept)	Poretti Boltshauser syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9128018023) - 763344007 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316612023) - 763344007 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094670020) - 763344007 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094671024) - 763344007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096035024) - 763344007 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096036020) - 763344007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9091929022) - 763344007 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069895025) - 763344007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9094979024) - 763344007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519853023) - 763344007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519855027) - 763344007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538350028) - 763344007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9091923023) - 763344007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9091924028) - 763344007 -> 85102008 (116680003) View
116680003 \|Is a (attribute)\|	85102008 \|Cerebellar ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9091925027) - 763344007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9091927024) - 763344007 -> 193662007 (116680003) View
116680003 \|Is a (attribute)\|	193662007 \|Oculomotor apraxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9091928025) - 763344007 -> 253171007 (116680003) View
116680003 \|Is a (attribute)\|	253171007 \|Congenital malformation of cerebellum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9091930028) - 763344007 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9091931029) - 763344007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9094980022) - 763344007 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9142276020) - 763344007 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224591027) - 763344007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224592023) - 763344007 -> 49549006 (363698007) View
363698007 \|Finding site (attribute)\|	49549006 \|Structure of visual system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions 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
85102008 View
85102008	Cerebellar ataxia (disorder)	Cerebellar ataxia	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
253171007 View
253171007	Congenital malformation of cerebellum (disorder)	Dysgenesis of the cerebellum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
193662007 View
193662007	Oculomotor apraxia (disorder)	Oculomotor apraxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (8feb5d48-d220-53aa-9825-1852ec1e7b1a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.1	TRUE	ALWAYS G11.1 \| 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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