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Terminology chevron_right Concepts chevron_right 778025006

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Component

778025006

The component that hold information about this concept.

Fully Specified Name (FSN)

Atypical hypotonia cystinuria syndrome (disorder)

Shortest Term

Atypical hypotonia cystinuria 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

Atypical hypotonia cystinuria syndrome (disorder)

SCTID: 778025006, Primitive, Active

778025006|Atypical hypotonia cystinuria syndrome (disorder)|

vi Hội chứng cystin niệu giảm trương lực không điển hình
en Atypical hypotonia cystinuria syndrome
en Atypical hypotonia cystinuria syndrome (disorder)

Expression

778025006 |Atypical hypotonia cystinuria syndrome (disorder)|
 <<< 363070008 |Developmental hereditary disorder (disorder)| + 
37183000 |Cystinuria, type 1 (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 64033007 |Kidney structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 371880002 |Abnormally low (qualifier value)|,
363714003 |Interprets (attribute)| = 6918002 |Muscle tone (observable entity)| }
        { 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
4361000269116 - hội chứng cystin niệu giảm trương lực không điển hình (vi) View
4361000269116	vi	Synonym (core metadata concept)	hội chứng cystin niệu giảm trương lực không điển hình	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
3737289011 - Atypical hypotonia cystinuria syndrome (en) View
3737289011	en	Synonym (core metadata concept)	Atypical hypotonia cystinuria syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3737288015 - Atypical hypotonia cystinuria syndrome (disorder) (en) View
3737288015	en	Fully specified name (core metadata concept)	Atypical hypotonia cystinuria syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16405773027) - 778025006 -> 371880002 (363713009) View
363713009 \|Has interpretation (attribute)\|	371880002 \|Abnormally low (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10729787024) - 778025006 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316847029) - 778025006 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095257025) - 778025006 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095258024) - 778025006 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096621023) - 778025006 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096622027) - 778025006 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069712023) - 778025006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10729788025) - 778025006 -> 6918002 (363714003) View
363714003 \|Interprets (attribute)\|	6918002 \|Muscle tone (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10729790029) - 778025006 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10729791025) - 778025006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575285025) - 778025006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10729789022) - 778025006 -> 37183000 (116680003) View
116680003 \|Is a (attribute)\|	37183000 \|Cystinuria, type 1 (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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37183000 View
37183000	Cystinuria, type 1 (disorder)	Cystinuria, type 1	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 (447f9930-a5a9-50d8-9390-d9bb3c823574) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.0	TRUE	ALWAYS E72.0 \| 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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