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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1560-6660
http://purl.bioontology.org/ontology/CSP/1560-6660
|
|---|---|
| Preferred Name | severe combined immunodeficiency |
| Definitions |
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.
|
| Synonyms |
SCID
reticular dysgenesis
adenosine deaminase deficiency
combined T and B cell inborn immunodeficiency
bare lymphocyte syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| altLabel |
SCID
reticular dysgenesis
adenosine deaminase deficiency
combined T and B cell inborn immunodeficiency
bare lymphocyte syndrome
|
| prefLabel | severe combined immunodeficiency
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1560-6660
|
| Semantic type UMLS property | |
| DID | 1560-6660
|
| cui |
C0272167
C0085110
C0268124
C0242583
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |