Physician Data Query

Last uploaded: January 31, 2024
Preferred Name

severe combined immunodeficiency

Synonyms

SCID

Definitions

X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004 Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3472" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3472" NCI Thesaurus)

ID

http://purl.bioontology.org/ontology/PDQ/CDR0000586519

altLabel

SCID

cui

C0085110

DATE FIRST PUBLISHED

2008-01-29

Date last modified

2017-03-30

definition

X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004 Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3472" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3472" NCI Thesaurus)

NCI ID

C3472

notation

CDR0000586519

ORIG STY

Genetic condition

prefLabel

severe combined immunodeficiency

tui

T047

subClassOf

http://purl.bioontology.org/ontology/PDQ/CDR0000586517

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http://purl.bioontology.org/ontology/MDRFRE/10069566 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/31323000 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D016511 MESH CUI
http://purl.bioontology.org/ontology/LNC/MTHU036640 LOINC CUI
http://purl.bioontology.org/ontology/SNMI/DC-51010 SNMI CUI
http://purl.bioontology.org/ontology/LNC/LP111254-1 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10069566 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU009056 OMIM CUI
http://purl.bioontology.org/ontology/LNC/LA12566-8 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10069566 MDRGER CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0085110 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/RCD/C392. RCD CUI
http://purl.bioontology.org/ontology/OMIM/MTHU059940 OMIM CUI
http://purl.bioontology.org/ontology/CSP/1560-6660 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D016511 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/31323000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/MTHU067671 OMIM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003425 NDFRT CUI
http://purl.obolibrary.org/obo/HP_0004430 HP LOOM
http://purl.obolibrary.org/obo/HP_0004430 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015974 EFO LOOM
http://purl.obolibrary.org/obo/DOID_627 DOID LOOM
http://purl.obolibrary.org/obo/HP_0004430 HP LOOM
http://purl.obolibrary.org/obo/MONDO_0015974 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_18303 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.800 RH-MESH LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#severe_combined_immunodeficiency NRO LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Severe_Combined_Immunodeficiency RPO LOOM
http://purl.bioontology.org/ontology/MESH/D016511 MESH LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036640 LOINC LOOM
http://purl.obolibrary.org/obo/NCIT_C3472 BERO LOOM
http://purl.jp/bio/4/id/200906020931802418 IOBC LOOM
http://purl.bioontology.org/ontology/LNC/LP111254-1 LOINC LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU009056 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15435 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/LA12566-8 LOINC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038521 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0085110 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/HP_0004430 INBANCIDO LOOM
http://purl.obolibrary.org/obo/HP_0004430 CIDO LOOM
http://purl.obolibrary.org/obo/HP_0004430 UPHENO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.673.815 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0016994 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3472 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.815 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016511 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1560-6660 CRISP LOOM
http://purl.obolibrary.org/obo/MONDO_0015974 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_183660 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_627 CLO LOOM
http://purl.obolibrary.org/obo/DOID_627 DTO LOOM
http://purl.obolibrary.org/obo/DOID_627 COVID-19 LOOM
http://purl.obolibrary.org/obo/DOID_627 BAO LOOM
http://purl.obolibrary.org/obo/DOID_627 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_627 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_627 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_627 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_627 NATPRO LOOM
http://purl.bioontology.org/ontology/RCTV2/C392100 RCTV2 LOOM