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Terminology chevron_right Concepts chevron_right 722067005

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Component

722067005

The component that hold information about this concept.

Fully Specified Name (FSN)

Omenn syndrome (disorder)

Shortest Term

Omenn 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

Omenn syndrome (disorder)

SCTID: 722067005, Primitive, Active

722067005|Omenn syndrome (disorder)|

en Omenn syndrome (disorder)
en Severe combined immunodeficiency with hypereosinophilia
en Omenn syndrome

Expression

722067005 |Omenn syndrome (disorder)|
 <<< 191358004 |Hereditary eosinophilia (disorder)| + 
362993009 |Autosomal recessive severe combined immunodeficiency disease (disorder)| + 
417967008 |Disorder of eosinophil (disorder)| + 
128139000 |Inflammatory disorder (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 71960002 |Eosinophil count (procedure)| }
        { 363698007 |Finding site (attribute)| = 127916009 |Eosinophilic granulocytic cell (cell)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 409774005 |Inflammatory morphology (morphologic abnormality)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5459313012 - Omenn syndrome (disorder) (en) View
5459313012	en	Fully specified name (core metadata concept)	Omenn syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3330457013 - Severe combined immunodeficiency with hypereosinophilia (disorder) (en) View
3330457013	en	Fully specified name (core metadata concept)	Severe combined immunodeficiency with hypereosinophilia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3330458015 - Severe combined immunodeficiency with hypereosinophilia (en) View
3330458015	en	Synonym (core metadata concept)	Severe combined immunodeficiency with hypereosinophilia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3330459011 - Omenn syndrome (en) View
3330459011	en	Synonym (core metadata concept)	Omenn syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6782425029) - 722067005 -> 190997006 (116680003) View
116680003 \|Is a (attribute)\|	190997006 \|Severe combined immunodeficiency with low t- and b-cell numbers (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6782430025) - 722067005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6782431026) - 722067005 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16360687027) - 722067005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16360688021) - 722067005 -> 128139000 (116680003) View
116680003 \|Is a (attribute)\|	128139000 \|Inflammatory disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16360689029) - 722067005 -> 409774005 (116676008) View
116676008 \|Associated morphology (attribute)\|	409774005 \|Inflammatory morphology (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12825109025) - 722067005 -> 417967008 (116680003) View
116680003 \|Is a (attribute)\|	417967008 \|Disorder of eosinophil (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12825110024) - 722067005 -> 127916009 (363698007) View
363698007 \|Finding site (attribute)\|	127916009 \|Eosinophilic granulocytic cell (cell)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11170882028) - 722067005 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6782428027) - 722067005 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6782429024) - 722067005 -> 386789004 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	386789004 \|Eosinophil count above reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9287140021) - 722067005 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9287141020) - 722067005 -> 71960002 (363714003) View
363714003 \|Interprets (attribute)\|	71960002 \|Eosinophil count (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6782426028) - 722067005 -> 191358004 (116680003) View
116680003 \|Is a (attribute)\|	191358004 \|Hereditary eosinophilia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6782427021) - 722067005 -> 362993009 (116680003) View
116680003 \|Is a (attribute)\|	362993009 \|Autosomal recessive severe combined immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
417967008 View
417967008	Disorder of eosinophil (disorder)	Disorder of eosinophil	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
191358004 View
191358004	Hereditary eosinophilia (disorder)	Hereditary eosinophilia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
362993009 View
362993009	Autosomal recessive severe combined immunodeficiency disease (disorder)	Autosomal recessive scid	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128139000 View
128139000	Inflammatory disorder (disorder)	Inflammatory disease	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 (330f6fbe-8b34-58ea-b6b9-eabbe3cc6af3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D81.1	TRUE	ALWAYS D81.1	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 (7150efa3-31d4-519c-a69d-939275d9a91d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D72.1	TRUE	ALWAYS D72.1	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 (bbb5b165-dd67-50f3-86a3-5e628e22aa2b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D81.8	TRUE	ALWAYS D81.8 \| 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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