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Terminology chevron_right Concepts chevron_right 68618008

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Component

68618008

The component that hold information about this concept.

Fully Specified Name (FSN)

Rett's disorder (disorder)

Shortest Term

Rett 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

Rett's disorder (disorder)

SCTID: 68618008, Primitive, Active

68618008|Rett's disorder (disorder)|

en Rett syndrome (disorder)
en Cerebroatrophic hyperammonaemia
en Cerebroatrophic hyperammonemia
en Rett disorder
en Rts - rett syndrome
en Rett's disorder
en Rett syndrome

Expression

68618008 |Rett's disorder (disorder)|
 <<< 230226000 |System disorder of the nervous system (disorder)| + 
35919005 |Pervasive developmental disorder (disorder)| + 
78689005 |Chronic brain syndrome (disorder)| + 
128293007 |Chronic mental disorder (disorder)| + 
1162984000 |X-linked dominant hereditary disease (disorder)| + 
1296869000 |Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (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
808473018 - Rett's disorder (disorder) (en) View
808473018	en	Fully specified name (core metadata concept)	Rett's disorder (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
2951769014 - Retts syndrome (en) View
2951769014	en	Synonym (core metadata concept)	Retts syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5287632014 - Rett syndrome (disorder) (en) View
5287632014	en	Fully specified name (core metadata concept)	Rett syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
501065014 - Cerebroatrophic hyperammonaemia (en) View
501065014	en	Synonym (core metadata concept)	Cerebroatrophic hyperammonaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
113978015 - Cerebroatrophic hyperammonemia (en) View
113978015	en	Synonym (core metadata concept)	Cerebroatrophic hyperammonemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2838409013 - Rett disorder (en) View
2838409013	en	Synonym (core metadata concept)	Rett disorder	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1233070014 - RTS - Rett syndrome (en) View
1233070014	en	Synonym (core metadata concept)	RTS - Rett syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
113976016 - Rett's disorder (en) View
113976016	en	Synonym (core metadata concept)	Rett's disorder	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
113977013 - Rett syndrome (en) View
113977013	en	Synonym (core metadata concept)	Rett syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9126545023) - 68618008 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316562021) - 68618008 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15819087024) - 68618008 -> 1162984000 (116680003) View
116680003 \|Is a (attribute)\|	1162984000 \|X-linked dominant hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15819088025) - 68618008 -> 1296869000 (116680003) View
116680003 \|Is a (attribute)\|	1296869000 \|Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15819089022) - 68618008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15819090029) - 68618008 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094532028) - 68618008 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094533022) - 68618008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095897021) - 68618008 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095898027) - 68618008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2550043027) - 68618008 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11576829020) - 68618008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12615388027) - 68618008 -> 78689005 (116680003) View
116680003 \|Is a (attribute)\|	78689005 \|Chronic brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12615389024) - 68618008 -> 128293007 (116680003) View
116680003 \|Is a (attribute)\|	128293007 \|Chronic mental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12615390026) - 68618008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12615391027) - 68618008 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (845297020) - 68618008 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (259730025) - 68618008 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (259729024) - 68618008 -> 4949009 (116680003) View
116680003 \|Is a (attribute)\|	4949009 \|Motor skill disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (259731026) - 68618008 -> 230226000 (116680003) View
116680003 \|Is a (attribute)\|	230226000 \|System disorder of the nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (259732022) - 68618008 -> 35919005 (116680003) View
116680003 \|Is a (attribute)\|	35919005 \|Pervasive developmental disorder (disorder)\|	0	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
1296869000 View
1296869000	Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	Mecp2 related disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1162984000 View
1162984000	X-linked dominant hereditary disease (disorder)	X-linked dominant hereditary disease	900000000000074008 \|Necessary but not sufficient concept 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
35919005 View
35919005	Pervasive developmental disorder (disorder)	Autism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78689005 View
78689005	Chronic brain syndrome (disorder)	Chronic brain syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128293007 View
128293007	Chronic mental disorder (disorder)	Chronic mental disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
230226000 View
230226000	System disorder of the nervous system (disorder)	System disorder of the nervous system	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

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 (b7e23352-fc12-5489-9871-a113addaba7d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F84.2	TRUE	ALWAYS F84.2 \| 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)\|

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