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Terminology chevron_right Concepts chevron_right 190996002

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Component

190996002

The component that hold information about this concept.

Fully Specified Name (FSN)

Severe combined immunodeficiency with reticular dysgenesis (disorder)

Shortest Term

Severe combined immunodefiency with reticular dysgenesis

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

Severe combined immunodeficiency with reticular dysgenesis (disorder)

SCTID: 190996002, Primitive, Active

190996002|Severe combined immunodeficiency with reticular dysgenesis (disorder)|

en Severe combined immunodeficiency with reticular dysgenesis
en Severe combined immunodeficiency with reticular dysgenesis (disorder)

Expression

190996002 |Severe combined immunodeficiency with reticular dysgenesis (disorder)|
 <<< 3439009 |Severe combined immunodeficiency due to absent peripheral t cell maturation (disorder)| + 
63565007 |Congenital anemia (disorder)| + 
414030009 |Disorder of immune structure (disorder)| + 
414395005 |Hereditary white blood cell disorder (disorder)| + 
89655007 |Congenital neutropenia (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 14089001 |Red blood cell count (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 30630007 |Neutrophil count (procedure)| }
        { 363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3028977019 - Severe combined immunodeficiency with reticular dysgenesis (en) View
3028977019	en	Synonym (core metadata concept)	Severe combined immunodeficiency with reticular dysgenesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3028945017 - Severe combined immunodeficiency with reticular dysgenesis (disorder) (en) View
3028945017	en	Fully specified name (core metadata concept)	Severe combined immunodeficiency with reticular dysgenesis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
293704019 - Severe combined immunodefiency with reticular dysgenesis (en) View
293704019	en	Synonym (core metadata concept)	Severe combined immunodefiency with reticular dysgenesis	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
574644010 - Severe combined immunodefiency with reticular dysgenesis (disorder) (en) View
574644010	en	Fully specified name (core metadata concept)	Severe combined immunodefiency with reticular dysgenesis (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (959608025) - 190996002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11170264023) - 190996002 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14976334024) - 190996002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14976388025) - 190996002 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2700291027) - 190996002 -> 63565007 (116680003) View
116680003 \|Is a (attribute)\|	63565007 \|Congenital anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464169027) - 190996002 -> 165423001 (116680003) View
116680003 \|Is a (attribute)\|	165423001 \|Red blood cell count below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9464170026) - 190996002 -> 165397008 (116680003) View
116680003 \|Is a (attribute)\|	165397008 \|Hemoglobin below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (959609022) - 190996002 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12437039020) - 190996002 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2773785021) - 190996002 -> 89655007 (116680003) View
116680003 \|Is a (attribute)\|	89655007 \|Congenital neutropenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799017023) - 190996002 -> 303011007 (116680003) View
116680003 \|Is a (attribute)\|	303011007 \|Neutropenic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1693209022) - 190996002 -> 271737000 (116680003) View
116680003 \|Is a (attribute)\|	271737000 \|Anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5045949026) - 190996002 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2791734025) - 190996002 -> 165517008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	165517008 \|Neutropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7545021021) - 190996002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7545022025) - 190996002 -> 30630007 (363714003) View
363714003 \|Interprets (attribute)\|	30630007 \|Neutrophil count (procedure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1789345026) - 190996002 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2273123029) - 190996002 -> 62574001 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	62574001 \|Erythropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2700293029) - 190996002 -> 414394009 (116680003) View
116680003 \|Is a (attribute)\|	414394009 \|Hereditary red blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6764625027) - 190996002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6764626026) - 190996002 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6764627024) - 190996002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6764628025) - 190996002 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3582082028) - 190996002 -> 250271003 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250271003 \|White blood cell finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (959610028) - 190996002 -> 24484000 (246112005) View
246112005 \|Severity (attribute)\|	24484000 \|Severe (severity modifier) (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2742435029) - 190996002 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1693207024) - 190996002 -> 303011007 (116680003) View
116680003 \|Is a (attribute)\|	303011007 \|Neutropenic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2492552020) - 190996002 -> 24827003 (116676008) View
116676008 \|Associated morphology (attribute)\|	24827003 \|White blood cell abnormality (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2742436028) - 190996002 -> 250271003 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250271003 \|White blood cell finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1693206026) - 190996002 -> 363136009 (116680003) View
116680003 \|Is a (attribute)\|	363136009 \|Hereditary disorder of hematologic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1693210028) - 190996002 -> 40888008 (116680003) View
116680003 \|Is a (attribute)\|	40888008 \|Congenital anomaly of the hematopoietic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2273124024) - 190996002 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2700292023) - 190996002 -> 414030009 (116680003) View
116680003 \|Is a (attribute)\|	414030009 \|Disorder of immune structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2700294024) - 190996002 -> 414395005 (116680003) View
116680003 \|Is a (attribute)\|	414395005 \|Hereditary white blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1789346025) - 190996002 -> 52501007 (363698007) View
363698007 \|Finding site (attribute)\|	52501007 \|Leukocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (326097021) - 190996002 -> 31323000 (116680003) View
116680003 \|Is a (attribute)\|	31323000 \|Severe combined immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1693208025) - 190996002 -> 3439009 (116680003) View
116680003 \|Is a (attribute)\|	3439009 \|Severe combined immunodeficiency due to absent peripheral t cell maturation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
63565007 View
63565007	Congenital anemia (disorder)	Congenital anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
414030009 View
414030009	Disorder of immune structure (disorder)	Disorder of immune structure	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
414395005 View
414395005	Hereditary white blood cell disorder (disorder)	Hereditary white blood cell disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
3439009 View
3439009	Severe combined immunodeficiency due to absent peripheral t cell maturation (disorder)	Scid due to absent peripheral t cell maturation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
89655007 View
89655007	Congenital neutropenia (disorder)	Kostmann's syndrome	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 (e19ab3d9-351b-5a96-a0b6-1c651be6b7d1) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D81.0	TRUE	ALWAYS D81.0	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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