Preferred Name |
Severe Combined Immunodeficiency [Disease/Finding] |
|
Synonyms |
Immunodeficiency, Severe Combined |
|
ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003425 |
|
altLabel |
Immunodeficiency, Severe Combined Immunologic Deficiency, Severe Combined Immunodeficiency Syndrome, Severe Combined Severe Combined Immune Deficiency Severe Combined Immunologic Deficiency Severe Combined Immunodeficiency Syndrome Severe Combined Immunodeficiency |
|
cui |
C0085110 |
|
May be treated by | ||
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). |
|
MESH DUI |
D016511 |
|
MeSH name |
Severe Combined Immunodeficiency |
|
MESH UI |
M0025203 |
|
NDFRT kind |
DISEASE_KIND |
|
notation |
N0000003425 |
|
NUI |
N0000003425 |
|
prefLabel |
Severe Combined Immunodeficiency [Disease/Finding] |
|
SNOMED CID |
31323000 |
|
tui |
T047 |
|
subClassOf |