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Terminology chevron_right Concepts chevron_right 733032006

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Component

733032006

The component that hold information about this concept.

Fully Specified Name (FSN)

Epilepsy telangiectasia syndrome (disorder)

Shortest Term

Epilepsy telangiectasia 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

Epilepsy telangiectasia syndrome (disorder)

SCTID: 733032006, Primitive, Active

733032006|Epilepsy telangiectasia syndrome (disorder)|

en Epilepsy telangiectasia syndrome
en Epilepsy telangiectasia syndrome (disorder)

Expression

733032006 |Epilepsy telangiectasia syndrome (disorder)|
 <<< 23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
84757009 |Epilepsy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
231870008 |Conjunctival telangiectasis (disorder)| + 
310798000 |Brachydactyly of hand (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
112401000119106 |Lesion of conjunctiva (disorder)| + 
429448005 |Congenital anomaly of anterior segment of eye (disorder)| + 
128327004 |Congenital anomaly of ocular adnexa (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
897328006 |Abnormally short little finger (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11182007 |Abnormally short growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 362773007 |Entire little finger (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 83678007 |Cerebral structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 112641009 |Telangiectasis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 29445007 |Conjunctival 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
3498611018 - Epilepsy telangiectasia syndrome (en) View
3498611018	en	Synonym (core metadata concept)	Epilepsy telangiectasia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498610017 - Epilepsy telangiectasia syndrome (disorder) (en) View
3498610017	en	Fully specified name (core metadata concept)	Epilepsy telangiectasia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6978992028) - 733032006 -> 20948006 (116680003) View
116680003 \|Is a (attribute)\|	20948006 \|Congenital anomaly of finger (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16344876020) - 733032006 -> 897328006 (116680003) View
116680003 \|Is a (attribute)\|	897328006 \|Abnormally short little finger (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9127993029) - 733032006 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316812021) - 733032006 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531465021) - 733032006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531473028) - 733032006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10546745028) - 733032006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10546746027) - 733032006 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12092398025) - 733032006 -> 54873004 (116680003) View
116680003 \|Is a (attribute)\|	54873004 \|Congenital anomaly of orbit proper (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15095177029) - 733032006 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095178023) - 733032006 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096541024) - 733032006 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096542028) - 733032006 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069539028) - 733032006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6979004025) - 733032006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6979007021) - 733032006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6979010025) - 733032006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6979012022) - 733032006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6980416028) - 733032006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6980417021) - 733032006 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6980418027) - 733032006 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6980419024) - 733032006 -> 362773007 (363698007) View
363698007 \|Finding site (attribute)\|	362773007 \|Entire little finger (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6994079026) - 733032006 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044173024) - 733032006 -> 112641009 (116676008) View
116676008 \|Associated morphology (attribute)\|	112641009 \|Telangiectasis (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044174029) - 733032006 -> 29445007 (363698007) View
363698007 \|Finding site (attribute)\|	29445007 \|Conjunctival structure (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531462024) - 733032006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531463025) - 733032006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531464020) - 733032006 -> 29445007 (363698007) View
363698007 \|Finding site (attribute)\|	29445007 \|Conjunctival structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531466022) - 733032006 -> 112641009 (116676008) View
116676008 \|Associated morphology (attribute)\|	112641009 \|Telangiectasis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531468023) - 733032006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531469026) - 733032006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531470025) - 733032006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531471026) - 733032006 -> 429448005 (116680003) View
116680003 \|Is a (attribute)\|	429448005 \|Congenital anomaly of anterior segment of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531474023) - 733032006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531475024) - 733032006 -> 128327004 (116680003) View
116680003 \|Is a (attribute)\|	128327004 \|Congenital anomaly of ocular adnexa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549313020) - 733032006 -> 362773007 (363698007) View
363698007 \|Finding site (attribute)\|	362773007 \|Entire little finger (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549314025) - 733032006 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549315029) - 733032006 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978996025) - 733032006 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6979002026) - 733032006 -> 91175000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	91175000 \|Seizure (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6978993022) - 733032006 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978994027) - 733032006 -> 84757009 (116680003) View
116680003 \|Is a (attribute)\|	84757009 \|Epilepsy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978995026) - 733032006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978997023) - 733032006 -> 231870008 (116680003) View
116680003 \|Is a (attribute)\|	231870008 \|Conjunctival telangiectasis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978998029) - 733032006 -> 310798000 (116680003) View
116680003 \|Is a (attribute)\|	310798000 \|Brachydactyly of hand (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978999021) - 733032006 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6979000023) - 733032006 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6979001022) - 733032006 -> 112401000119106 (116680003) View
116680003 \|Is a (attribute)\|	112401000119106 \|Lesion of conjunctiva (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897328006 View
897328006	Abnormally short little finger (disorder)	Shortened little finger	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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
112401000119106 View
112401000119106	Lesion of conjunctiva (disorder)	Conjunctival lesion	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
429448005 View
429448005	Congenital anomaly of anterior segment of eye (disorder)	Iridocorneal dysgenesis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
310798000 View
310798000	Brachydactyly of hand (disorder)	Brachydactyly of hand	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128327004 View
128327004	Congenital anomaly of ocular adnexa (disorder)	Congenital anomaly of ocular adnexa	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
84757009 View
84757009	Epilepsy (disorder)	Epilepsy	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
231870008 View
231870008	Conjunctival telangiectasis (disorder)	Conjunctival telangiectasis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (d860398a-7ff1-5b74-9185-c3b3d6ded6c6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.8	TRUE	ALWAYS G40.8 \| 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 (f6978867-0810-5c02-bc3b-a8deef186df8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H11.4	TRUE	ALWAYS H11.4	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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