Cell Line Ontology

Last uploaded: March 21, 2022
Preferred Name

primary immunodeficiency disease

Synonyms

"Immunodeficiency disorder (disorder)" EXACT [SNOMEDCT_2005_07_31:234532001]

"Immunodeficiency" EXACT [NCI2004_11_17:C39725]

"immunodeficiency syndrome" EXACT [NCI2004_11_17:C3131]

"hypoimmunity" EXACT [CSP2005:1553-9570]

"immune deficiency disorder" EXACT [CSP2005:1560-5885]

"Unspecified immunity deficiency" EXACT [ICD9CM_2006:279.3]

"Immunodeficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:64431000]

"Unspecified immunity deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:191005003]

Definitions

"An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation." [url:http\://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases]

ID

http://purl.obolibrary.org/obo/DOID_612

comment

"An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation." [url:http\://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases]

alternative term

"Immunodeficiency disorder (disorder)" EXACT [SNOMEDCT_2005_07_31:234532001]

"Immunodeficiency" EXACT [NCI2004_11_17:C39725]

"immunodeficiency syndrome" EXACT [NCI2004_11_17:C3131]

"hypoimmunity" EXACT [CSP2005:1553-9570]

"immune deficiency disorder" EXACT [CSP2005:1560-5885]

"Unspecified immunity deficiency" EXACT [ICD9CM_2006:279.3]

"Immunodeficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:64431000]

"Unspecified immunity deficiency (disorder)" EXACT [SNOMEDCT_2005_07_31:191005003]

label

primary immunodeficiency disease

prefixIRI

DOID:612

prefLabel

primary immunodeficiency disease

see also

SNOMEDCT_2010_1_31:191005003

SNOMEDCT_2010_1_31:234532001

OMIM2009_05_01:MTHU007447

NCI2009_04D:C3131

SNOMEDCT_2010_1_31:64431000

URI: http://www.ebi.ac.uk/cellline#primary_immunodeficiency_disease

NCI2009_04D:C39725

MSH2010_2010_02_22:D007153

UMLS_CUI:C0021051

ICD9CM_2010:279.3

subClassOf

http://purl.obolibrary.org/obo/DOID_0050177

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