Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Severe Combined Immunodeficiency
Synonyms

Familial Reticuloendotheliosis

Familial Reticuloendothelioses
Definitions

Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).
ID

http://purl.bioontology.org/ontology/MESH/D016511
altLabel

Familial Reticuloendotheliosis

Omenn Syndrome

Severe Combined Immunodeficiencies

Immunodeficiency, Severe Combined

Combined Immunodeficiency, Severe

Immunologic Deficiency, Severe Combined

Immunodeficiency Syndrome, Severe Combined

Omenn's Syndrome

Severe Combined Immune Deficiency

Combined Immunodeficiencies, Severe

Syndrome, Omenn's

Bare Lymphocyte Syndrome

Immunodeficiencies, Severe Combined

Lymphocyte Syndrome, Bare

Syndromes, Bare Lymphocyte

Syndrome, Bare Lymphocyte

Omenns Syndrome

Lymphocyte Syndromes, Bare

Reticuloendotheliosis, Familial

Severe Combined Immunologic Deficiency

Severe Combined Immunodeficiency Syndrome

Reticuloendothelioses, Familial

Syndrome, Omenn

Bare Lymphocyte Syndromes

Familial Reticuloendothelioses
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0085110

C2700553

C0242583
DC

1
definition

Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).
DX

19920101
HN

1992
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation

1992
Mapped from

http://purl.bioontology.org/ontology/MESH/C563822

http://purl.bioontology.org/ontology/MESH/C538361

http://purl.bioontology.org/ontology/MESH/C538362

http://purl.bioontology.org/ontology/MESH/C566970

http://purl.bioontology.org/ontology/MESH/C531816

http://purl.bioontology.org/ontology/MESH/C536786

http://purl.bioontology.org/ontology/MESH/C536781

http://purl.bioontology.org/ontology/MESH/C567115

http://purl.bioontology.org/ontology/MESH/C563440

http://purl.bioontology.org/ontology/MESH/C536722

http://purl.bioontology.org/ontology/MESH/C563311

http://purl.bioontology.org/ontology/MESH/C565984

http://purl.bioontology.org/ontology/MESH/C565910

http://purl.bioontology.org/ontology/MESH/C538564

http://purl.bioontology.org/ontology/MESH/C537589

http://purl.bioontology.org/ontology/MESH/C537079

http://purl.bioontology.org/ontology/MESH/C537590

http://purl.bioontology.org/ontology/MESH/C565759

http://purl.bioontology.org/ontology/MESH/C557827

http://purl.bioontology.org/ontology/MESH/C557826

http://purl.bioontology.org/ontology/MESH/C538465
MDA

19910103
MMR

20190617
MN

C16.320.798.750

C18.452.284.800

C16.614.815

C20.673.795.750
notation

D016511
prefLabel

Severe Combined Immunodeficiency
TERMUI

T049382

T049379

T717826

T000860875

T049380

T717825

T049381

T049377

T049376

T717827

T049383
TH

OMIM (2013)

NLM (2009)

NLM (1995)

NLM (2015)

NLM (1992)

ORD (2010)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D000081207

http://purl.bioontology.org/ontology/MESH/D007232

http://purl.bioontology.org/ontology/MESH/D049914
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http://purl.bioontology.org/ontology/MDRGER/10069566 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10069097 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/71904008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10069566 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/31323000 SCTSPA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000586519 PDQ 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/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.bioontology.org/ontology/SCTSPA/722067005 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/605988 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/179615 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/179616 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X20HM RCD CUI
http://purl.bioontology.org/ontology/OMIM/603554 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/307650006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D016511 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/722067005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10069097 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10069097 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X20HL RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/D81.6 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/DC-51070 SNMI 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/SCTSPA/71904008 SCTSPA CUI
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/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/PDQ/CDR0000586519 PDQ 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 HP 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