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Terminology chevron_right Concepts chevron_right 782886007

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Component

782886007

The component that hold information about this concept.

Fully Specified Name (FSN)

Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)

Shortest Term

Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease 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

Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)

SCTID: 782886007, Primitive, Active

782886007|Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)|

en Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
en Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)

Expression

782886007 |Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)|
 <<< 1362108000 |Genetic intellectual disability (disorder)| + 
111394006 |Metabolic disorder of transport (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (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
3756554010 - Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (en) View
3756554010	en	Synonym (core metadata concept)	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3756553016 - Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) (en) View
3756553016	en	Fully specified name (core metadata concept)	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11226072021) - 782886007 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316854024) - 782886007 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095275029) - 782886007 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095276028) - 782886007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096639025) - 782886007 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096640028) - 782886007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069740029) - 782886007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226073027) - 782886007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226074022) - 782886007 -> 111394006 (116680003) View
116680003 \|Is a (attribute)\|	111394006 \|Metabolic disorder of transport (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226075023) - 782886007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226076024) - 782886007 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226077026) - 782886007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11576210021) - 782886007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	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
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
111394006 View
111394006	Metabolic disorder of transport (disorder)	Metabolic disorder of transport	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 (43801e30-e39c-5ee3-a219-981273927c1d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F82	TRUE	ALWAYS F82	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 (ae6a0084-ac2c-560c-a319-1cde254305be) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G23.8	TRUE	ALWAYS G23.8	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 (af34cb1c-a757-5adb-a46c-55f159243fb9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.4	TRUE	ALWAYS G40.4 \| 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 (c6393588-7d6e-5f41-baf8-c14c196bc0e5) 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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