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Terminology chevron_right Concepts chevron_right 1229883008

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Component

1229883008

The component that hold information about this concept.

Fully Specified Name (FSN)

19p13.3 microduplication syndrome (disorder)

Shortest Term

19p13.3 microduplication 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

19p13.3 microduplication syndrome (disorder)

SCTID: 1229883008, Primitive, Active

1229883008|19p13.3 microduplication syndrome (disorder)|

en 19p13.3 microduplication syndrome
en 19p13.3 microduplication syndrome (disorder)

Expression

1229883008 |19p13.3 microduplication syndrome (disorder)|
 <<< 1148758003 |Congenital microcephaly (disorder)| + 
726359007 |Partial trisomy of short arm of chromosome 19 (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 278145009 |Short arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89959003 |Chromosome pair 19 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 1303834006 |Abnormal smallness (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 69536005 |Head structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 169876006 |Birth head circumference (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5065618015 - 19p13.3 microduplication syndrome (en) View
5065618015	en	Synonym (core metadata concept)	19p13.3 microduplication syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5065617013 - 19p13.3 microduplication syndrome (disorder) (en) View
5065617013	en	Fully specified name (core metadata concept)	19p13.3 microduplication syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15219222028) - 1229883008 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15219225026) - 1229883008 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316968027) - 1229883008 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219237029) - 1229883008 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15898974028) - 1229883008 -> 1303834006 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303834006 \|Abnormal smallness (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281613027) - 1229883008 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281614022) - 1229883008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281615023) - 1229883008 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281616024) - 1229883008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219223022) - 1229883008 -> 1148758003 (116680003) View
116680003 \|Is a (attribute)\|	1148758003 \|Congenital microcephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219224027) - 1229883008 -> 726359007 (116680003) View
116680003 \|Is a (attribute)\|	726359007 \|Partial trisomy of short arm of chromosome 19 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219226025) - 1229883008 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219227023) - 1229883008 -> 169876006 (363714003) View
363714003 \|Interprets (attribute)\|	169876006 \|Birth head circumference (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219228029) - 1229883008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219229021) - 1229883008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219230027) - 1229883008 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219231028) - 1229883008 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219232024) - 1229883008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219233025) - 1229883008 -> 89959003 (363698007) View
363698007 \|Finding site (attribute)\|	89959003 \|Chromosome pair 19 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219234020) - 1229883008 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219235021) - 1229883008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219236022) - 1229883008 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219238023) - 1229883008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	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
1148758003 View
1148758003	Congenital microcephaly (disorder)	Congenital microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726359007 View
726359007	Partial trisomy of short arm of chromosome 19 (disorder)	Duplication of short arm of chromosome 19	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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 (f37739b4-3b81-5e45-a57f-b6e7aa42494f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.3	TRUE	ALWAYS Q92.3 \| 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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