Preferred Name |
Severe Combined Immunodeficiency |
|
Synonyms |
Severe Combined Immunodeficiency Severe Combined Immune Deficiency severe combined immunodeficiency disease 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 |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3472 |
|
ALT_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. 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 |
|
code |
C3472 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
|
Contributing_Source |
Cellosaurus CTRP MedDRA 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 |
|
Display_Name |
Severe Combined Immunodeficiency |
|
FULL_SYN |
Severe Combined Immunodeficiency Severe Combined Immune Deficiency severe combined immunodeficiency disease SCID |
|
label |
Severe Combined Immunodeficiency |
|
Legacy Concept Name |
Severe_Combined_Immunodeficiency |
|
Maps_To |
Severe combined immunodeficiency syndrome |
|
Preferred_Name |
Severe Combined Immunodeficiency |
|
prefixIRI |
Thesaurus:C3472 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C3806381 |
|
subClassOf |