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Terminology chevron_right Concepts chevron_right 116133005

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Component

116133005

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital agammaglobulinemia (disorder)

Shortest Term

Congenital agammaglobulinemia

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

Congenital agammaglobulinemia (disorder)

SCTID: 116133005, Primitive, Active

116133005|Congenital agammaglobulinemia (disorder)|

en Congenital agammaglobulinaemia
en Congenital agammaglobulinemia
en Congenital agammaglobulinemia (disorder)

Expression

116133005 |Congenital agammaglobulinemia (disorder)|
 <<< 36138009 |Congenital immunodeficiency disease (disorder)| : 
        { 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
419773014 - Congenital agammaglobulinaemia (en) View
419773014	en	Synonym (core metadata concept)	Congenital agammaglobulinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
178841019 - Congenital agammaglobulinemia (en) View
178841019	en	Synonym (core metadata concept)	Congenital agammaglobulinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
675266019 - Congenital agammaglobulinemia (disorder) (en) View
675266019	en	Fully specified name (core metadata concept)	Congenital agammaglobulinemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (611518029) - 116133005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11172331026) - 116133005 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2717173024) - 116133005 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (611519021) - 116133005 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (101257022) - 116133005 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
36138009 View
36138009	Congenital immunodeficiency disease (disorder)	Congenital immunodeficiency disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1351647002 View
1351647002	Autosomal dominant agammaglobulinemia due to pu.1 deficiency (disorder)	Agammaglobulinemia due to spi1 defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351648007 View
1351648007	Autosomal recessive agammaglobulinemia due to folliculin interacting protein 1 deficiency (disorder)	Agammaglobulinemia due to fnip1 defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1230295000 View
1230295000	B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)	Bilu syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764858009 View
764858009	Isolated agammaglobulinemia (disorder)	Isolated agammaglobulinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722281001 View
722281001	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
22406001 View
22406001	Severe combined immunodeficiency due to absent lymphoid stem cells (disorder)	Swiss type agammaglobulinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234533006 View
234533006	X-linked agammaglobulinemia with growth hormone deficiency (disorder)	Fleisher syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234534000 View
234534000	Autosomal agammaglobulinemia with absent b-cells (disorder)	Female xla	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (556ebd85-b540-506a-8968-0a7cca50c3d3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D80.0	TRUE	ALWAYS D80.0	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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