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

http://purl.bioontology.org/ontology/NDFRT/N0000148176

http://purl.bioontology.org/ontology/NDFRT/N0000158074

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

http://purl.bioontology.org/ontology/NDFRT/N0000171675

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