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Terminology chevron_right Concepts chevron_right 1363573005

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Component

1363573005

The component that hold information about this concept.

Fully Specified Name (FSN)

Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder)

Shortest Term

Dhx30-related neurodevelopmental disorder

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

Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder)

SCTID: 1363573005, Primitive, Active

1363573005|Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder)|

en Dhx30-related neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome
en Dhx30-related neurodevelopmental disorder
en Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome
en Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder)

Expression

1363573005 |Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder)|
 <<< 118940003 |Disorder of nervous system (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
20262006 |Ataxia (finding)| + 
229721007 |Speech delay (disorder)| + 
40700009 |Severe intellectual disability (disorder)| + 
78164000 |Feeding problem (finding)| + 
1137472008 |Neurodevelopmental delay (disorder)| : 
        { 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)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 288547000 |Ability to perform functions related to communication (observable entity)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 364645004 |Eating feeding / drinking observable (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5449746010 - DHX30-related neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (en) View
5449746010	en	Synonym (core metadata concept)	DHX30-related neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5449749015 - DHX30-related neurodevelopmental disorder (en) View
5449749015	en	Synonym (core metadata concept)	DHX30-related neurodevelopmental disorder	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5449748011 - Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (en) View
5449748011	en	Synonym (core metadata concept)	Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5449747018 - Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) (en) View
5449747018	en	Fully specified name (core metadata concept)	Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16407927021) - 1363573005 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334032026) - 1363573005 -> 118940003 (116680003) View
116680003 \|Is a (attribute)\|	118940003 \|Disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334033020) - 1363573005 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334034025) - 1363573005 -> 20262006 (116680003) View
116680003 \|Is a (attribute)\|	20262006 \|Ataxia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334035029) - 1363573005 -> 229721007 (116680003) View
116680003 \|Is a (attribute)\|	229721007 \|Speech delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334036028) - 1363573005 -> 40700009 (116680003) View
116680003 \|Is a (attribute)\|	40700009 \|Severe intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334037021) - 1363573005 -> 78164000 (116680003) View
116680003 \|Is a (attribute)\|	78164000 \|Feeding problem (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334038027) - 1363573005 -> 364645004 (363714003) View
363714003 \|Interprets (attribute)\|	364645004 \|Eating feeding / drinking observable (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334039024) - 1363573005 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334040021) - 1363573005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334041020) - 1363573005 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334042029) - 1363573005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334043023) - 1363573005 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334044028) - 1363573005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334045027) - 1363573005 -> 288547000 (363714003) View
363714003 \|Interprets (attribute)\|	288547000 \|Ability to perform functions related to communication (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16334046026) - 1363573005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1137472008 View
1137472008	Neurodevelopmental delay (disorder)	Neurodevelopmental delay	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
40700009 View
40700009	Severe intellectual disability (disorder)	Severe mental handicap	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
20262006 View
20262006	Ataxia (finding)	Ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78164000 View
78164000	Feeding problem (finding)	Feeding problem	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
118940003 View
118940003	Disorder of nervous system (disorder)	Neurological disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
229721007 View
229721007	Speech delay (disorder)	Chậm nói	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 (1198e9d0-3d38-5929-98f3-4f2ec12d3eaa) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.8	TRUE	ALWAYS G11.8 \| 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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