skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Severe Combined Immunodeficiency (CUI C0085110) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0085110

NCI Thesaurus Code: C3472  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt 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

LNC Definition: Severe combined immunodeficiency (SCID) is an inherited disorder of the immune system resulting from a defect in both T and B lymphocytes. Beginning in the first few months of life, affected individuals are prone to recurrent and persistent infections caused by opportunistic bacteria, viruses, and fungi. These infections are often serious or life-threatening. Researchers have described several different types of severe combined immunodeficiency, which are caused by mutations in multiple genes.

GARD Definition: Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, affected children do not grow and gain weight as expected (failure to thrive). SCID may be caused by mutations in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person. Without treatment, affected children rarely live past the age of two. - this information is from GARD/ORDR/NCATS.

HPO Definition: Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems. [HPO:curators]

NCI-GLOSS Definition: A rare, inherited disease that is marked by a lack of B lymphocytes (white blood cells that make antibodies and help fight infections) and a lack of T lymphocytes (white blood cells that attack virus-infected cells, foreign cells, and cancer cells). Patients with this disease have a high risk of developing viral, bacterial, and fungal infections.

NICHD 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

CSP 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; about half of the patients with autosomal recessive SCID are deficient in the enzyme adenosine deaminase.

MSH 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).

Synonyms & Abbreviations: (see Synonym Details)
Combined Immunodeficiencies, Severe
Combined Immunodeficiency, Severe
combined T and B cell inborn immunodeficiency
Combined T-cell and B-cell immunodeficiency
IMMUNODEFIC SEVERE COMBINED
IMMUNODEFIC SYNDROME SEVERE COMBINED
Immunodeficiencies, Severe Combined
Immunodeficiency Syndrome, Severe Combined
IMMUNODEFICIENCY, SEVERE COMBINED
IMMUNOL DEFIC SEVERE COMBINED
Immunologic Deficiency, Severe Combined
SCID - Severe combined immunodeficiency
SCID
Severe Combined Immune Deficiency
SEVERE COMBINED IMMUNODEFIC SYNDROME
Severe Combined Immunodeficiencies
Severe Combined Immunodeficiency [Disease/Finding]
Severe combined immunodeficiency disease (disorder)
severe combined immunodeficiency disease
Severe combined immunodeficiency syndrome
severe combined immunodeficiency
SEVERE COMBINED IMMUNODEFIC
SEVERE COMBINED IMMUNOL DEFIC
Severe Combined Immunologic Deficiency

External Source Codes: 
NCI Thesaurus Code C3472 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
Contributing_Source CTRP NCI
Contributing_Source MedDRA NCI
Contributing_Source NICHD NCI
CTV3ID C392. SNOMEDCT_US
DATE_CREATED 2008-03-18T09:46:00Z HPO
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_FIRST_PUBLISHED 2008-01-29 PDQ
DATE_LAST_MODIFIED 2010-02-05 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1560-6660 CSP
DISEASE_IDENTIFIER_ID 5723 GARD
DX 19920101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXTERNALLY_DEFINED N LNC
GLOBAL_ID 31323000 LNC
GLOBAL_ID_CODE_SYSTEM SCT LNC
HAS_GARD_PAGE true GARD
HN 1992 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19910103 MSH
MESH_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). NDFRT
MESH_DUI D016511 NDFRT
MESH_NAME Severe Combined Immunodeficiency NDFRT
MESH_UI M0025203 NDFRT
MMR 20140620 MSH
MN C16.614.815 MSH
MN C18.452.284.800 MSH
MN C20.673.815 MSH
NCI_THESAURUS_CODE C3472 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Severe Combined Immunodeficiency NCI
NUI N0000003425 NDFRT
ORIG_STY Genetic condition PDQ
PM 1992 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1 GARD
RXAUI 3178515 RXNORM
RXAUI 3178518 RXNORM
RXAUI 3178681 RXNORM
RXAUI 3237878 RXNORM
RXAUI 3237879 RXNORM
RXAUI 3237880 RXNORM
RXAUI 3237881 RXNORM
RXAUI 6817434 RXNORM
RXCUI 990288 RXNORM
SMQ_TERM_ADDVERSION 12.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 31323000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D81.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~D81.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D81.9 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D81.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C392. SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T000860875 MSH
TERMUI T049376 MSH
TERMUI T049377 MSH
TERMUI T049379 MSH
TERMUI T049380 MSH
TERMUI T049381 MSH
TERMUI T049382 MSH
TH NLM (1992) MSH
TH NLM (2015) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0085110

Mainbox Bottom