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Terminology chevron_right Concepts chevron_right 702344008

Production

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Component

702344008

The component that hold information about this concept.

Fully Specified Name (FSN)

Pitt-hopkins syndrome (disorder)

Shortest Term

Pitt-hopkins 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

Pitt-hopkins syndrome (disorder)

SCTID: 702344008, Primitive, Active

702344008|Pitt-hopkins syndrome (disorder)|

en Pitt-hopkins syndrome
en Pitt-hopkins syndrome (disorder)
en Pths - pitt-hopkins syndrome

Expression

702344008 |Pitt-hopkins syndrome (disorder)|
 <<< 1362108000 |Genetic intellectual disability (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
128613002 |Seizure disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
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
2995603016 - Pitt-Hopkins syndrome (en) View
2995603016	en	Synonym (core metadata concept)	Pitt-Hopkins syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2995763012 - Pitt-Hopkins syndrome (disorder) (en) View
2995763012	en	Fully specified name (core metadata concept)	Pitt-Hopkins syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2995797017 - PTHS - Pitt-Hopkins syndrome (en) View
2995797017	en	Synonym (core metadata concept)	PTHS - Pitt-Hopkins syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9127755029) - 702344008 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316580028) - 702344008 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094588021) - 702344008 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094589029) - 702344008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095953023) - 702344008 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095954028) - 702344008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069801026) - 702344008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570364029) - 702344008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12527850021) - 702344008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9273997025) - 702344008 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968022022) - 702344008 -> 71831005 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	71831005 \|Symptomatic generalized epilepsy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4968023028) - 702344008 -> 91138005 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9273995022) - 702344008 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9273996023) - 702344008 -> 128613002 (116680003) View
116680003 \|Is a (attribute)\|	128613002 \|Seizure disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968021026) - 702344008 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary 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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128613002 View
128613002	Seizure disorder (disorder)	Bệnh co giật	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	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 (0e9db85f-6c93-56c0-8456-3c06551f17a6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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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