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Terminology chevron_right Concepts chevron_right 1360083000

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Component

1360083000

The component that hold information about this concept.

Fully Specified Name (FSN)

Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (disorder)

Shortest Term

Nocarh 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

Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (disorder)

SCTID: 1360083000, Primitive, Active

1360083000|Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (disorder)|

en Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome
en Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (disorder)
en Nocarh syndrome

Expression

1360083000 |Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
1295193002 |Type i interferon-associated autoinflammatory disease (disorder)| + 
234350007 |Neonatal anemia (disorder)| + 
234437005 |Hemophagocytic lymphohistiocytosis (disorder)| + 
234469001 |Inherited platelet disorder (disorder)| + 
414028007 |Disorder of hematopoietic system in newborn (disorder)| + 
414395005 |Hereditary white blood cell disorder (disorder)| + 
5876000 |Acquired pancytopenia (disorder)| + 
82835005 |Neonatal thrombocytopenia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1186648002 |Histiocytic proliferation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 127908000 |Mononuclear phagocyte system structure (body structure)|,
246454002 |Occurrence (attribute)| = 255407002 |Neonatal (qualifier value)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 409774005 |Inflammatory morphology (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
246454002 |Occurrence (attribute)| = 255407002 |Neonatal (qualifier value)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 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)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 61928009 |Platelet count (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 767002 |White blood cell count (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 74848003 |Hemostatic function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5439674011 - Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (en) View
5439674011	en	Synonym (core metadata concept)	Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5439673017 - Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (disorder) (en) View
5439673017	en	Fully specified name (core metadata concept)	Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5439672010 - NOCARH syndrome (en) View
5439672010	en	Synonym (core metadata concept)	NOCARH syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16299676020) - 1360083000 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299677027) - 1360083000 -> 1295193002 (116680003) View
116680003 \|Is a (attribute)\|	1295193002 \|Type i interferon-associated autoinflammatory disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299678021) - 1360083000 -> 234350007 (116680003) View
116680003 \|Is a (attribute)\|	234350007 \|Neonatal anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299679029) - 1360083000 -> 234437005 (116680003) View
116680003 \|Is a (attribute)\|	234437005 \|Hemophagocytic lymphohistiocytosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299680026) - 1360083000 -> 234469001 (116680003) View
116680003 \|Is a (attribute)\|	234469001 \|Inherited platelet disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299681027) - 1360083000 -> 414028007 (116680003) View
116680003 \|Is a (attribute)\|	414028007 \|Disorder of hematopoietic system in newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299682023) - 1360083000 -> 414395005 (116680003) View
116680003 \|Is a (attribute)\|	414395005 \|Hereditary white blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299683029) - 1360083000 -> 5876000 (116680003) View
116680003 \|Is a (attribute)\|	5876000 \|Acquired pancytopenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299684024) - 1360083000 -> 82835005 (116680003) View
116680003 \|Is a (attribute)\|	82835005 \|Neonatal thrombocytopenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299685020) - 1360083000 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299686021) - 1360083000 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299687028) - 1360083000 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299688022) - 1360083000 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299689025) - 1360083000 -> 61928009 (363714003) View
363714003 \|Interprets (attribute)\|	61928009 \|Platelet count (procedure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299690023) - 1360083000 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299691022) - 1360083000 -> 767002 (363714003) View
363714003 \|Interprets (attribute)\|	767002 \|White blood cell count (procedure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299692026) - 1360083000 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299693020) - 1360083000 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299694025) - 1360083000 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299696028) - 1360083000 -> 127908000 (363698007) View
363698007 \|Finding site (attribute)\|	127908000 \|Mononuclear phagocyte system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299697021) - 1360083000 -> 1186648002 (116676008) View
116676008 \|Associated morphology (attribute)\|	1186648002 \|Histiocytic proliferation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299698027) - 1360083000 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299700020) - 1360083000 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299701024) - 1360083000 -> 409774005 (116676008) View
116676008 \|Associated morphology (attribute)\|	409774005 \|Inflammatory morphology (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299702028) - 1360083000 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16314159026) - 1360083000 -> 255407002 (246454002) View
246454002 \|Occurrence (attribute)\|	255407002 \|Neonatal (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16314160020) - 1360083000 -> 255407002 (246454002) View
246454002 \|Occurrence (attribute)\|	255407002 \|Neonatal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1295193002 View
1295193002	Type i interferon-associated autoinflammatory disease (disorder)	Type 1 interferonopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
5876000 View
5876000	Acquired pancytopenia (disorder)	Acquired pancytopenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82835005 View
82835005	Neonatal thrombocytopenia (disorder)	Neonatal purpura	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
234350007 View
234350007	Neonatal anemia (disorder)	Neonatal anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
234469001 View
234469001	Inherited platelet disorder (disorder)	Hereditary thrombocytopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
414028007 View
414028007	Disorder of hematopoietic system in newborn (disorder)	Neonatal disorder of hematopoietic system	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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234437005 View
234437005	Hemophagocytic lymphohistiocytosis (disorder)	Hemophagocytic 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 (438d4361-25cb-5a6b-8315-6eedba798a40) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D76.1	TRUE	ALWAYS D76.1 \| 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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