Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

T-B+ severe combined immunodeficiency

Synonyms

T-B+ SCID

Definitions

T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.

ID

http://www.orpha.net/ORDO/Orphanet_317416

alternative_term

T-B+ SCID

definition

T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317416

hasDbXref

UMLS:C5679894

ICD-10:D81.2

ICD-11:4A01.10

label

T-B+ severe combined immunodeficiency

notation

ORPHA:317416

Clinical group

prefixIRI

ORDO:Orphanet_317416

prefLabel

T-B+ severe combined immunodeficiency

subClassOf

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_183660

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