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Terminology chevron_right Concepts chevron_right 763743003

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Component

763743003

The component that hold information about this concept.

Fully Specified Name (FSN)

Intellectual disability, spasticity, ectrodactyly syndrome (disorder)

Shortest Term

Jancar 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

Intellectual disability, spasticity, ectrodactyly syndrome (disorder)

SCTID: 763743003, Primitive, Active

763743003|Intellectual disability, spasticity, ectrodactyly syndrome (disorder)|

en Intellectual disability, spasticity, ectrodactyly syndrome
en Intellectual disability, spasticity, ectrodactyly syndrome (disorder)
en Jancar syndrome

Expression

763743003 |Intellectual disability, spasticity, ectrodactyly syndrome (disorder)|
 <<< 1187279003 |Autosomal recessive hereditary spastic paraplegia (disorder)| + 
81208006 |Ectrodactyly (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 2748008 |Spinal cord structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 361367007 |Entire digit (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 62175007 |Structure of right lower limb (body structure)| }
        { 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)| }
        { 363698007 |Finding site (attribute)| = 1264400000 |Structure of motor nervous system (body structure)| }
        { 363698007 |Finding site (attribute)| = 32153003 |Structure of left lower limb (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 2667000 |Absent (qualifier value)|,
363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3643600019 - Intellectual disability, spasticity, ectrodactyly syndrome (en) View
3643600019	en	Synonym (core metadata concept)	Intellectual disability, spasticity, ectrodactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3643601015 - Intellectual disability, spasticity, ectrodactyly syndrome (disorder) (en) View
3643601015	en	Fully specified name (core metadata concept)	Intellectual disability, spasticity, ectrodactyly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3643599017 - Jancar syndrome (en) View
3643599017	en	Synonym (core metadata concept)	Jancar syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16398128027) - 763743003 -> 1264400000 (363698007) View
363698007 \|Finding site (attribute)\|	1264400000 \|Structure of motor nervous system (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15277033028) - 763743003 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9132180022) - 763743003 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316621024) - 763743003 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970612022) - 763743003 -> 61685007 (363698007) View
363698007 \|Finding site (attribute)\|	61685007 \|Lower limb structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15277034023) - 763743003 -> 62175007 (363698007) View
363698007 \|Finding site (attribute)\|	62175007 \|Structure of right lower limb (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15320811028) - 763743003 -> 32153003 (363698007) View
363698007 \|Finding site (attribute)\|	32153003 \|Structure of left lower limb (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15320812024) - 763743003 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15320813025) - 763743003 -> 2667000 (363713009) View
363713009 \|Has interpretation (attribute)\|	2667000 \|Absent (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970609024) - 763743003 -> 128293007 (116680003) View
116680003 \|Is a (attribute)\|	128293007 \|Chronic mental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15094692024) - 763743003 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094693025) - 763743003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096057028) - 763743003 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096058022) - 763743003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9132181021) - 763743003 -> 192949002 (116680003) View
116680003 \|Is a (attribute)\|	192949002 \|Congenital paraplegia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9132182025) - 763743003 -> 192967009 (116680003) View
116680003 \|Is a (attribute)\|	192967009 \|Spastic paraplegia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9132183024) - 763743003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9145696027) - 763743003 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224365029) - 763743003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9240217025) - 763743003 -> 61685007 (363698007) View
363698007 \|Finding site (attribute)\|	61685007 \|Lower limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523692021) - 763743003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523693027) - 763743003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14970608027) - 763743003 -> 1187279003 (116680003) View
116680003 \|Is a (attribute)\|	1187279003 \|Autosomal recessive hereditary spastic paraplegia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970610025) - 763743003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970611026) - 763743003 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970613028) - 763743003 -> 2748008 (363698007) View
363698007 \|Finding site (attribute)\|	2748008 \|Spinal cord structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970614023) - 763743003 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9240216023) - 763743003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10601095023) - 763743003 -> 275348004 (116680003) View
116680003 \|Is a (attribute)\|	275348004 \|Adactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13180470021) - 763743003 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523691025) - 763743003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9132178027) - 763743003 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9132179024) - 763743003 -> 81208006 (116680003) View
116680003 \|Is a (attribute)\|	81208006 \|Ectrodactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224366028) - 763743003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9240215022) - 763743003 -> 361367007 (363698007) View
363698007 \|Finding site (attribute)\|	361367007 \|Entire digit (body structure)\|	2	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
1187279003 View
1187279003	Autosomal recessive hereditary spastic paraplegia (disorder)	Autosomal recessive hereditary spastic paraplegia	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
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
81208006 View
81208006	Ectrodactyly (disorder)	Ectrodactyly	900000000000074008 \|Necessary but not sufficient concept 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 (130ed89f-8ee4-5a0d-9c75-0f501d8610a8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2 \| 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 (bb59105d-9411-51fe-81c2-2a28598d139c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F79.9	TRUE	ALWAYS F79.9	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)\|

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