National Drug File - Reference Terminology

Last uploaded: July 6, 2018
Id http://purl.bioontology.org/ontology/NDFRT/N0000003425
http://purl.bioontology.org/ontology/NDFRT/N0000003425
Preferred Name

Severe Combined Immunodeficiency [Disease/Finding]
Synonyms
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
Type http://www.w3.org/2002/07/owl#Class

All Properties

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
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prefLabel
Severe Combined Immunodeficiency [Disease/Finding]
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 UI
M0025203
MeSH name
Severe Combined Immunodeficiency
type
tui
T047
SNOMED CID
31323000
May be treated by
notation
N0000003425
Semantic type UMLS property
NUI
N0000003425
cui
C0085110
NDFRT kind
DISEASE_KIND
subClassOf
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